Invitae is a New York state approved clinical laboratory. The tests and genes on this page are approved or under conditional approval by New York State to be performed at Invitae and do not require a New York exemption form.
To add genes to your cart, first select a clinical area to see available combinations
The A4GALT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with congenital disorders of glycosylation (A4GALT-CDG) (PMID: 30454869).
The AAAS gene is associated with autosomal recessive glucocorticoid deficiency with achalasia, also known as achalasia addisonianism alacrimia syndrome (Triple A syndrome) (MedGen UID: 82889).
The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 908570). Additionally, the AARS gene has preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids 2 (MedGen UID: 990467) and autosomal dominant Nonphotosensitive trichothiodystrophy 8 (Medgen UID: 990154 ).
The AARS2 gene is associated with autosomal recessive progressive leukoencephalopathy with ovarian failure (LKENP) (MedGen UID: 863025), and autosomal recessive combined oxidative phosphorylation deficiency 8 (COXPD8) (MedGen UID: 481423).
The AASS gene is associated with autosomal recessive hyperlysinemia type I (MedGen UID: 810610).
The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (MedGen UID: 137977).
The ABCA1 gene is associated with autosomal recessive Tangier disease (MedGen UID: 52644). Additionally, the ABCA1 gene has preliminary evidence supporting a correlation with autosomal dominant high-density lipoprotein (HDL) deficiency (MedGen UID: 352844).
The ABCB11 gene is associated with autosomal recessive progressive familial intrahepatic cholestasis (PFIC) (MedGen UID: 483742) and benign recurrent intrahepatic cholestasis (BRIC) (MedGen UID: 435857).
The ABCB4 gene is associated with an autosomal dominant spectrum of liver and gallbladder conditions which include low phospholipid-associated cholelithiasis syndrome (LPAC) (MedGen UID: 760527) and intrahepatic cholestasis of pregnancy (ICP) (MedGen UID: 767155). The ABCB4 gene is also associated with autosomal recessive progressive familial intrahepatic cholestasis (MedGen UID: 356333).
The ABCB7 gene is associated with X-linked sideroblastic anemia and spinocerebellar ataxia (ASAT) (MedGen UID: 335078).
The ABCC2 gene is associated with autosomal recessive Dubin-Johnson syndrome (MedGen UID: 7181).
The ABCC8 gene is associated with both autosomal recessive and autosomal dominant forms of permanent neonatal diabetes mellitus (MedGen UID: 371484) and congenital hyperinsulinism (MedGen UID: 226230). Parent-of-origin inheritance may impact the risk for certain ABCC8-related conditions.
The ABCD1 gene is associated with X-linked adrenoleukodystrophy (X-ALD) (MedGen UID: 57667).
The ABCD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a disorder of bile acid biosynthesis (PMID: 25168382).
The ABCD4 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin J (cblJ) deficiency (PMID: 22922874).
The ABCG5 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).
The ABCG8 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).
The ABHD5 gene is associated with autosomal recessive Chanarin-Dorfman syndrome (CDS) (MedGen UID: 82780).
The ACACA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a neurodevelopmental disorder (PMID: 28135719).
The ACAD8 gene is associated with autosomal recessive isobutyryl-CoA dehydrogenase deficiency (MedGen UID: 370754).
The ACAD9 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 20 (MC1DN20), also referred to as acyl-CoA dehydrogenase 9 (ACAD9) deficiency (MedGen UID: 370195).
The ACADM gene is associated with autosomal recessive medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).
The ACADS gene is associated with autosomal recessive short chain acyl-CoA dehydrogenase (SCAD) deficiency (MedGen UID: 90998), a biochemical phenotype which may or may not result in a clinical condition.
The ACADSB gene is associated with autosomal recessive short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency, also known as 2-methylbutyryl-CoA dehydrogenase deficiency (MedGen UID: 355324), a biochemical phenotype which may or may not result in a clinical condition.
The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).
The ACAN gene is associated with a spectrum of autosomal dominant skeletal conditions ranging from nonsyndromic short stature (MedGen UID: 777109) to spondyloepiphyseal dysplasia, Kimberley type (SEDK) (MedGen UID: 330777), and autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 411237).
The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).
The ACBD5 gene is associated with an autosomal recessive syndrome involving cone-rod dystrophy and white matter disease (PMID: 23105016, 27799409).
The ACER3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with leukodystrophy (MedGen UID 1622324).
The ACO2 gene is associated with autosomal dominant optic atrophy (PMID: 34056600) and autosomal recessive infantile cerebellar-retinal degeneration (ICRD) (MedGen UID: 482822). Additionally, the ACO2 gene has preliminary evidence supporting a correlation with autosomal recessive optic atrophy (PMID: 34056600) and epilepsy (PMID: 26795593).
The ACOX1 gene is associated with autosomal recessive acyl-CoA oxidase deficiency (also known as pseudoneonatal adrenoleukodystrophy) (MedGen UID: 376636) and autosomal dominant axonal neuropathy (also known as Mitchell syndrome) (MedGen UID: 1714342).
The ACOX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive bile acid synthesis defect (PMID: 27647924).
The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).
The ACSF3 gene is associated with autosomal recessive combined malonic and methylmalonic aciduria (CMAMMA) (PMID: 21841779), a biochemical phenotype which may or may not result in a clinical condition.
The ACTA2 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 435866). Other ACTA2-related conditions have been reported (MedGen UID: 462551).
The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494). Additionally, the ACTB gene has preliminary evidence supporting a correlation with an autosomal dominant syndrome involving intellectual disability, behavioral and skeletal abnormalities, and microcephaly (PMID: 29220674, 31898838).
The ACVR1 gene is associated with autosomal dominant fibrodysplasia ossificans progressiva (FOP) (MedGen UID: 4698).
The ACY1 gene is associated with autosomal recessive aminoacylase-1 deficiency (MedGen UID: 324393).
The ADA gene is associated with autosomal recessive severe combined immunodeficiency due to adenosine deaminase deficiency (MedGen UID: 354935).
The ADAMTS10 gene is associated with autosomal recessive Weill-Marchesani syndrome (WMS) (MedGen UID: 358270).
The ADAMTS17 gene is associated with autosomal recessive Weill-Marchesani-like syndrome (MedGen UID: 416383).
The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071) and autosomal recessive Aicardi Goutieres syndrome (AGS) (MedGen UID: 761287).
The ADCY3 gene is associated with autosomal recessive ADCY3 deficiency (MedGen UID: 1638030). Additionally, the ADCY3 gene has preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 28263302).
The ADCY5 gene is associated with autosomal dominant ADCY5-related dyskinesia (MedGen UID: 338280) and an autosomal recessive dystonia syndrome (PMID: 30975617).
The ADD3 gene is associated with autosomal recessive spastic quadriplegic cerebral palsy (MedGen UID: 934734).
The ADGRG1 gene is associated with autosomal recessive polymicrogyria (MedGen UID: 816735, 376107).
The ADK gene is associated with autosomal recessive adenosine kinase deficiency (MedGen UID: 482011).
The ADNP gene is associated with autosomal dominant Helsmoortel-Van der Aa syndrome (HVDAS) (MedGen UID: 862975).
The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641).
The AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia) (MedGen UID: 894554).
The AFG3L2 gene is associated with autosomal dominant spinocerebellar ataxia 28 (SCA28) (MedGen UID: 339941) and autosomal recessive spastic ataxia 5 (SPAX5) (MedGen UID: 482607).
The AGA gene is associated with autosomal recessive aspartylglucosaminuria (AGU) (MedGen UID: 78649).
The AGAP1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal dominant autism spectrum disorder (PMID: 30472483) and cerebral palsy (PMID: 31700678, 25666757).
The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID: 395228). Additionally, the AGK gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic congenital cataracts (PMID: 22415731).
The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).
The AGPS gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 3 (RCDP) (MedGen UID: 374012).
The AGXT gene is associated with autosomal recessive primary hyperoxaluria, type 1 (PH1) (MedGen UID: 75658).
The AHCY gene is associated with autosomal recessive hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (MedGen UID: 462408).
The AHDC1 gene is associated with autosomal dominant Xia-Gibbs syndrome (MedGen UID: 862856).
The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).
The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350), X-linked deafness-5 (MedGen UID: 335096) and X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103).
The AIMP1 gene is associated with autosomal recessive hypomyelinating leukodystrophy 3 (HLD3) (MedGen UID: 342403).
The AIMP2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-17 (HLD17) (MedGen UID: 1644557).
The AK2 gene is associated with autosomal recessive reticular dysgenesis (MedGen UID: 124417).
The AKR1C4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with 46, XY sex reversal (PMID: 21802064, 28295047, MedGen UID: 333416).
The AKR1D1 gene is associated with autosomal recessive congenital bile acid synthesis defect (MedGen UID: 383840).
The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).
The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175) and autosomal dominant microcephaly (PMID: 32827175, 21800092).
The ALAD gene is associated with autosomal recessive Ī“-Aminolevulinic acid dehydratase deficiency porphyria (ADP) (MedGen UID: 78659). Biochemical testing for urinary aminolevulinic acid (ALA) levels should be considered in individuals with clinical suspicion of ADP (PMID: 15767622, 26366103).
The ALAS2 gene is associated with X-linked sideroblastic anemia (MedGen UID:1638704) and X-linked erythropoietic protoporphyria (MedGen UID: 394385).
The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 899774, 1720006), the latter of which is also known as pyrroline-5-carboxylate synthetase (P5CS) deficiency. The ALDH18A1 gene is also associated with autosomal dominant and recessive forms of spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 909058).
The ALDH3A2 gene is associated with autosomal recessive Sjƶgren-Larsson syndrome (SLS) (MedGen UID: 11443).
The ALDH4A1 gene is associated with autosomal recessive hyperprolinemia type 2 (MedGen UID: 78688).
The ALDH5A1 gene is associated with autosomal recessive succinic semialdehyde dehydrogenase (SSADH) deficiency (MedGen UID: 124340).
The ALDH6A1 gene is associated with autosomal recessive methylmalonate semialdehyde dehydrogenase deficiency (MedGen UID: 481470).
The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).
The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895).
The ALDOB gene is associated with autosomal recessive hereditary fructose intolerance (MedGen UID: 42105).
ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).
ALG11 is associated with autosomal recessive ALG11-congenital disorder of glycosylation (CDG-Ip) (MedGen UID 462263).
The ALG12 gene is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 443954).
The ALG13 gene is associated with X-linked congenital disorder of glycosylation ALG13-CDG-Is (MedGen UID: 76469) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 763818).
The ALG14 gene is associated with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 864033) and ALG14-congenital disorder of glycosylation (ALG14-CDG) (PMID: 28733338).
The ALG2 gene is associated with autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 864034). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) (MedGen UID: 334618).
ALG3 is associated with autosomal recessive ALG3-congenital disorder of glycosylation (CDG-Id) (MedGen UID 322026).
The ALG6 gene is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).
The ALG8 gene is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID: 419692) and autosomal dominant polycystic kidney disease (MedGen UID: 1646969).
ALG9 is associated with autosomal recessive ALG9-congenital disorder of glycosylation (CDG-IL) (MedGen UID: 324794). Additionally, the ALG9 gene has preliminary evidence supporting a correlation with autosomal dominant polycystic kidney disease (PMID: 31395617).
The ALMS1 gene is associated with autosomal recessive Alstrƶm syndrome (MedGen UID: 78675).
The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).
The ALS2 gene is associated with a spectrum of autosomal recessive conditions (MedGen UID: 489980): infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 419413), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis 2 (ALS2) (MedGen UID: 349246).
The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase (AMACR) deficiency (MedGen UID: 482058).
The AMER1 gene is associated with X-linked dominant osteopathia striata with cranial sclerosis (OSCS) (MedGen UID: 96590). Additionally, the AMER1 gene has preliminary evidence supporting a correlation with X-linked microtia-atresia (PMID: 33193662).
The AMN gene is associated with autosomal recessive Imerslund-GraĢsbeck syndrome (MedGen UID: 224934).
The AMPD1 gene is associated with autosomal recessive muscle AMP deaminase deficiency, a biochemical phenotype which may or may not result in a clinical condition (MMDD) (MedGen UID: 811508).
The AMPD2 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 9 (PCH9) (MedGen UID: 862791). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (MedGen UID:816625).
The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The ANK3 gene is associated with an autosomal dominant intellectual disability syndrome (PMID: 28687526, 34218362), and an autosomal recessive intellectual disability syndrome (MedGen UID: 816002).
The ANKH gene is associated with autosomal dominant craniometaphyseal dysplasia (CMD) (MedGen UID: 338945) and chondrocalcinosis (MedGen UID: 163633).
The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317) and Cornelia de Lange Syndrome (CdLS) (PMID: 25652421, 25125236).
The ANKS6 gene is associated with autosomal recessive nephronophthisis (NPHP16) (MedGen UID: 815650).
The ANO3 gene is associated with autosomal dominant dystonia 24 (DYT24) (MedGen UID: 767288).
The ANO5 gene is associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575). The ANO5 gene is also associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750).
The AP1S1 gene is associated with autosomal recessive intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, also known as MEDNIK syndrome (MedGen UID: 833683).
The AP1S2 gene is associated with X-linked recessive Pettigrew syndrome (MedGen UID: 162924).
The AP3B2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934604).
The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).
The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).
The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869). Additionally, the AP4M1 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (PMID: 29473051).
The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).
The AP5Z1 gene is associated with autosomal recessive hereditary spastic paraplegia 48 (SPG48) (MedGen UID: 462251).
The APC2 gene is associated with autosomal recessive complex cortical dysplasia with other brain malformations (MedGen UID: 1684859). Additionally, the APC2 gene has preliminary evidence supporting a correlation with autosomal recessive Sotos syndrome (MedGen UID: 934651).
The APOPT1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The APP gene is associated with autosomal dominant Alzheimer disease type 1 (AD1) (MedGen UID: 1853) and APP-related cerebral amyloid angiopathy (CAA) (MedGen UID: 414044).
The APPL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity onset diabetes of the young (MODY) (PMID: 26073777).
The APRT gene is associated with autosomal recessive adenine phosphoribosyltransferase (APRT) deficiency (MedGen UID: 82772).
The APTX gene is associated with autosomal recessive ataxia with oculomotor apraxia type 1 (AOA1) (MedGen UID: 395301).
The ARCN1 gene is associated with autosomal dominant rhizomelic short stature with microcephaly, micrognathia and developmental delay (SRMMD) (MedGen UID: 934653).
The ARFGEF2 gene is associated with autosomal recessive periventricular heterotopia (MedGen UID: 334110).
The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).
The ARHGAP31 gene is associated with autosomal dominant Adams-Oliver syndrome (AOS) (MedGen UID: 472018). Additionally, the ARHGAP31 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular outflow tract obstruction (PMID: 27760138).
The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia /developmental and epileptic encephalopathy (DEE8) (MedGen UID: 375581).
The ARID1A gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 766161).
The ARID1B gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 482831).
The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).
The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).
The ARL6IP1 gene is associated with autosomal recessive hereditary spastic paraplegia 61 (SPG61) (MedGen UID: 816624).
The ARNT2 gene is associated with autosomal recessive Webb-Dattani syndrome (MedGen UID: 863145).
The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MLD) (MedGen UID: 6071). Biochemical testing for arylsulfatase A (ARSA) enzyme activity and urine sulfatides should be considered in individuals with clinical suspicion of metachromatic leukodystrophy (PMIDs: 4953831, 4192207, 6054756).
The ARSB gene is associated with autosomal recessive mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (MedGen UID: 44514).
The ARSL gene, also known as ARSE, is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102).
The ARX gene is associated with X-linked recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).
The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854).
The ASCC1 gene is associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 2 (SMABF2) (MedGen UID: 907910).
The ASL gene is associated with autosomal recessive argininosuccinate lyase deficiency (MedGen UID: 78687).
The ASNS gene is associated with autosomal recessive asparagine synthetase (ASNS) deficiency (MedGen UID: 816301).
The ASPA gene is associated with autosomal recessive Canavan disease (MedGen UID: 61565).
The ASPM gene is associated with autosomal recessive primary microcephaly (MedGen UID: 373344).
The ASS1 gene is associated with autosomal recessive citrullinemia type I (MedGen UID: 104491).
The ASXL1 gene is associated with autosomal dominant Bohring-Opitz syndrome (BOS), which is also known as C-like syndrome (MedGen UID: 208678).
The ASXL2 gene is associated with autosomal dominant Shashi-Pena syndrome (MedGen UID: 934639).
The ATAD1 gene is associated with autosomal recessive hyperekplexia-4 (MedGen UID: 1642659).
The ATIC gene is associated with autosomal recessive AICA-ribosiduria (MedGen UID: 1372335).
The ATL1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322). The ATL1 gene is also associated with autosomal dominant and recessive hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393, PMID: 26888483).
The ATM gene is associated with autosomal dominant predisposition to breast, ovarian, pancreatic (PMID: 26483394, 28888541, 30733081), and prostate cancer (PMID: 27989354, 28657667). ATM is also associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, the ATM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to gastric (PMID: 26182300) and colon cancer (PMID: 30862463).
The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson disease 9 (PARK9), and autosomal recessive hereditary spastic paraplegia (SPG78) (MedGen UID: 934629). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive neuronal ceroid lipofuscinoses (PMID: 22388936) and amyotrophic lateral sclerosis (PMID: 30992063).
The ATP1A3 gene is associated with a spectrum of autosomal dominant neurological disorders ranging from autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood type 2 (AHC2) (MedGen UID: 766702).
The ATP2A2 gene is associated with autosomal dominant Darier disease, also known as keratosis follicularis (MedGen UID: 5956) and autosomal dominant acrokeratosis verruciformis of Hopf (MedGen UID: 75589).
The ATP5A1 gene is associated with autosomal dominant neonatal complex V deficiency (PMID: 34483339). In addition, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency-22 (COXPD22) (MedGen UID: 863499).
The ATP5F1D gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency (MedGen UID: 1648429).
The ATP5E gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (MedGen UID: 477906).
The ATP6AP1 gene is associated with X-linked recessive ATP6AP1 deficiency (MedGen UID: 934786).
The ATP6AP2 gene is associated with X-linked intellectual disability with epilepsy (MRXE) (MedGen UID: 337257) and glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC) (PMID: 29127204). Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297).
ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID 82795, 98030).
The ATP6V1A gene is associated with autosomal dominant childhood onset epileptic encephalopathy (EEOC) (MedGen UID: 1626137) and autosomal recessive cutis laxa type IID (ARCL2D) (MedGen UID: 1376619).
The ATP6V1E1 gene is associated with autosomal recessive cutis laxa type IIC (ARCL2C) (MedGen UID: 1385755).
The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).
The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).
The ATP8A2 gene is associated with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4) (MedGen UID: 815307).
The ATP8B1 gene is associated with autosomal recessive benign recurrent intrahepatic cholestasis-1 (BRIC1) (MedGen UID: 383756) and progressive familial intrahepatic cholestasis-1 (PFIC1) (MedGen UID: 1645830). Additionally, the ATP8B1 gene has preliminary evidence supporting a correlation with intrahepatic cholestasis of pregnancy (PMID: 15888793).
The ATPAF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (MedGen UID: 398105).
The ATR gene is associated with autosomal recessive Seckel syndrome 1 (MedGen UID: 830512). Additionally, the ATR gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to prostate (PMID: 27433846) and oropharyngeal cancer (PMID: 22341969).
The ATRIP gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Seckel syndrome (PMID: 23144622).
The ATRN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypomyelinating leukodystrophy (PMID: 28493104).
The ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).
The AUH gene is associated with autosomal recessive 3-methylglutaconic aciduria type 1 (MedGen UID: 473073).
The AUTS2 gene is associated with autosomal dominant AUTS2 syndrome (MedGen UID: 862872).
The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).
The B3GALT6 gene is associated with a spectrum of autosomal recessive conditions with features of both spondyloepimetaphyseal dysplasia (MedGen UID: 98148) and Ehlers-Danlos syndrome (MedGen UID: 815540).
The B3GAT3 gene is associated with the autosomal recessive multiple joint dislocations, short stature and craniofacial dysmorphism with or without congenital heart defects (JDSCD) (MedGen UID: 480034).
The B3GLCT gene is associated with autosomal recessive Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).
The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (MedGen UID: 373138).
The B4GALT1 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive B4GALT1-CDG (CDG-IId) (PMID: 11901181).
The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 1 (MedGen UID: 1646889).
The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).
The B9D1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 934673).
The B9D2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The BAAT gene is associated with autosomal recessive familial hypercholanemia (FHCA) (MedGen UID: 334689).
The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643), myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119) and Charcot-Marie-Tooth disease type 2 (PMID: 28754666).
The BBIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 807640).
The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452) and non-syndromic retinitis pigmentosa (PMID: 23143442, 27032803, 21520335).
The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).
The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910). Additionally, the BBS12 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 31047384).
The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 906896).
The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 423627) and non-syndromic retinitis pigmentosa (PMID: 22219648, 26355662).
The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141) and nonsyndromic retinitis pigmentosa (PMID: 28041643, 24154662).
The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).
The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182). Additionally, the BBS9 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 28981474).
The BCAP31 gene is associated with X-linked recessive deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome (MedGen UID: 812964).
The BCAT2 gene is associated with autosomal recessive hypervalinemia or hyperleucine-isoleucinemia (Medgen UID: 1719306).
The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).
The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).
The BCKDK gene is associated with autosomal recessive branched-chain ketoacid dehydrogenase kinase deficiency (BCKDK deficiency) (MedGen UID: 766992).
The BCL11B gene is associated with autosomal dominant BCL11B deficiency (MedGen UID: 934623).
The BCS1L gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) (MedGen UID: 762097), Bjornstad syndrome (MedGen UID: 82728), and GRACILE syndrome (MedGen UID: 400428).
The BDNF gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Wilm’s tumor, aniridia, genitourinary anomalies, Intellectual disability and obesity (WAGRO) syndrome (PMID: 18753648).
The BGN gene is associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 376281) and X-linked thoracic aortic aneurysm and dissection (TAAD), with or without additional features, also known as Meester-Loeys syndrome (MedGen UID: 934778).
The BHLHA9 gene is associated with autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction (MedGen UID: 324459). Additionally, the BHLHA9 gene has preliminary evidence supporting a correlation with autosomal recessive complex camptosynpolydactyly (MedGen UID: 375276).
The BICD2 gene is associated with autosomal dominant spinal muscular atrophy, lower extremity predominant 2A (SMALED2A) (MedGen UID: 1669929) and 2B (SMALED2B) (MedGen UID: 1648362).
The BLK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity onset diabetes of the young, type 11 (PMID: 28993341, 29439679, 30191644).
The BLVRA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive and autosomal dominant hyperbiliverdinemia (MedGen UID: 481594).
The BMP1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 766801).
The BMP2 gene is associated with autosomal dominant short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (MedGen UID: 1635916). Additionally, the BMP2 gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly type A2 (MedGen UID: 318690).
The BMP4 gene is associated with autosomal dominant microphthalmia (MCOP) (MedGen UID: 355268). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693) tooth agenesis (PMID: 31128441), and Stickler syndrome (PMID: 30568244).
The BMPER gene is associated with autosomal recessive diaphanospondylodysostosis (MedGen UID: 374993).
The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 355199) and autosomal dominant brachydactyly (MedGen UID: 903193). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (MedGen UID: 57749) and ocular coloboma (PMID: 35034853).
The BOLA3 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 2 (MMDS2) (MedGen UID: 482008).
The BPTF gene is associated with an autosomal dominant neurodevelopmental syndrome with dysmorphic facies and distal limb anomalies (MedGen UID: 1627464).
The BRAT1 gene is associated with a spectrum of autosomal recessive conditions including neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659) and neurodevelopmental disorder with cerebellar atrophy with or without seizures (NEDCAS) (MedGen UID: 1648373).
The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 23142943), also known as distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 419034). It is also associated with a spectrum of autosomal recessive conditions including congenital generalized lipodystrophy, type 2 (CGL2) (MedGen UID: 318593) and progressive encephalopathy with or without lipodystrophy (PELD) (MedGen UID: 863137).
The BSND gene is associated with autosomal recessive Bartter syndrome type 4a (BARTS4A) (MedGen UID: 355430) and non-syndromic deafness (PMID: 19646679, 24949729).
The BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).
The BTRC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split hand/foot malformation (PMID: 27600068).
The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474).
The C12ORF65 gene is associated with autosomal recessive hereditary spastic paraplegia 55 (SPG55) (MedGen UID: 761342) and autosomal recessive combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).
The C19orf12 gene is associated with autosomal dominant and recessive mitochondrial membrane protein-associated neurodegeneration (MPAN) (MedGen UID: 482001). Additionally, the C19orf12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).
The C19orf70 gene is associated with autosomal recessive mitochondrial hepato-encephalopathy (MedGen UID: 941251).
The C1GALT1C1 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with acquired Tn polyagglutination syndrome (PMID: 16251947, 18537974).
C1QBP is associated with autosomal recessive combined oxidative phosphorylation deficiency 33 (COXPD33) (MedGen UID: 1623699).
The C2CD3 gene is associated with autosomal recessive oral-facial-digital syndrome type 14 (OFD14) (MedGen UID: 799885) and Joubert syndrome (PMID: 26477546, 2692869).
The C8orf37 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 482675) and retinitis pigmentosa (RP) (MedGen UID: 20551). Additionally, the C8orf37 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet Biedl syndrome (BBS) (PMID: 27008867).
The CA2 gene is associated with autosomal recessive carbonic anhydrase 2 (CA2) deficiency (MedGen UID: 91042).
The CA5A gene is associated with autosomal recessive carbonic anhydrase VA deficiency (MedGen UID: 816734; PMID: 26913920).
The CACNA1A gene is associated with autosomal dominant developmental and epileptic encephalopathy (DEE), also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934683), episodic ataxia type 2 (EA2) (MedGen UID: 314039), and familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331388). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458), which is caused by triplet repeat expansion. Triplet repeat expansions are not evaluated by this assay.
The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8, with or without neurodevelopmental features (MedGen UID: 331395). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).
The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).
The CACNA1E gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1648381) and an autosomal dominant neurodevelopmental condition without seizures (PMID: 34702355).
The CACNA1G gene is associated with autosomal dominant infantile- and adult-onset spinocerebellar ataxia 42 (MedGen UID: 1648308, 902592). Additionally, the CACNA1G gene has preliminary evidence supporting a correlation with autosomal dominant juvenile myoclonic epilepsy (PMID: 17397049).
The CAD gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 904125). Additionally, the CAD gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder with abnormal glycosylation, and congenital heart disease with neurodevelopmental disability (PMID: 25678555, 28191890, 26785492).
The CAMTA1 gene is associated with autosomal dominant non-progressive ataxia with intellectual disability (CANPMR) (MedGen UID: 766575).
The CANT1 gene is associated with autosomal recessive Desbuquois dysplasia (MedGen UID: 98479).
The CAPN1 gene is associated with autosomal recessive hereditary spastic paraplegia 76 (SPG76) (MedGen UID: 934767).
The CARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 27 (COXPD27) (MedGen UID: 322999).
The CASK gene is associated with a spectrum of X-linked conditions including intellectual disability (ID) (MedGen UID: 411367), FG syndrome 4 (FGS4) (MedGen UID: 336965 ), and intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 437070).
The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, the CASR gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624).
The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).
The CC2D2A gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322) and autosomal recessive retinal dystrophy (PMID: 30267408).
The CCDC115 gene is associated with autosomal recessive congenital disorder of glycosylation type IIo (CDG2O) (MedGen UID: 906792).
The CCDC8 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 481776).
The CCDC88A gene is associated with autosomal recessive progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome) (MedGen UID: 337956). Additionally, the CCDC88A gene has preliminary evidence supporting a correlation with autistic spectrum/developmental delay (PMID: 28191890, 28135719).
The CCDC88C gene is associated with autosomal recessive congenital hydrocephalus (HYC1) (MedGen UID: 854455). Additionally, the CCDC88C gene has preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia (SCA40) (MedGen UID: 1385103).
The CCNQ gene (formerly known as FAM58A) is associated with X-linked dominant STAR syndrome (MedGen UID: 394424).
The CCT5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory neuropathy with spastic paraplegia (MedGen UID: 342492).
The CD320 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive transcobalamin receptor deficiency (PMID: 20524213).
The CD96 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant C syndrome (MedGen UID: 167105).
The CDAN1 gene is associated with autosomal recessive congenital dyserythropoietic anemia (MedGen UID: 82891).
The CDC42 gene is associated with autosomal dominant Takenouchi-Kosaki syndrome (MedGen UID: 906646).
The CDC45 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 934705).
The CDC6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462476).
The CDH3 gene is associated with autosomal recessive congenital hypotrichosis with juvenile macular dystrophy (HJMD) (MedGen UID: 316921) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) (MedGen UID: 341679). Additionally, the CDH3 gene has preliminary evidence supporting a correlation with autosomal recessive isolated retinitis pigmentosa (PMID: 26306921).
The CDK5RAP2 gene is associated with autosomal recessive primary microcephaly (MCPH) (MedGen UID: 347619) and Seckel syndrome (PMID: 26436113).
The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054).
The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (BWS) (MedGen UID: 2562), IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364), and Silver-Russell syndrome (PMID: 24065356, 31976094).
The CDT1 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462470).
The CENPJ gene is associated with autosomal recessive primary microcephaly 6 (MCPH6) (MedGen UID: 330770) and Seckel syndrome 4 (SCKL4) (MedGen UID: 442100).
The CEP104 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 852392).
The CEP120 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 1618082) and short-rib thoracic dysplasia with or without polydactyly (SRTD) (MedGen UID: 898712).
The CEP135 gene is associated with autosomal recessive primary microcephaly and Seckel syndrome spectrum disorders (MedGen UID: 766328).
The CEP152 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 462537).
The CEP164 gene is associated with a spectrum of autosomal recessive conditions including nephronophthisis (MedGen UID: 762112) and Senior Loken syndrome (PMID: 22863007).
The CEP19 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 816654).
The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545), and Bardet-Biedl syndrome (MedGen UID: 393033).
The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).
The CEP63 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 766496). Additionally, the CEP63 gene has preliminary evidence supporting a correlation with developmental dyslexia (PMID: 26400686).
The CEP89 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 24038936) and polycystic kidney disease (PMID: 29527510).
The CEP97 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with primordial dwarfism (PMID: 28600779).
The CFAP410 gene (formerly known as C21orf2) is associated with autosomal recessive retinal dystrophy (MedGen UID: 1381980) and axial spondylometaphyseal dysplasia (SMDAX) (MedGen UID: 356065).
The CFTR gene is associated with autosomal recessive cystic fibrosis (CF) (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CAVD) (MedGen UID: 98021). Additionally, CFTR is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).
The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751).
The CHCHD10 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) (MedGen UID: 863085) and spinal muscular atrophy, Jokela type (SMAJ) (MedGen UID: 767312). Additionally, the CHCHD10 gene has preliminary evidence supporting a correlation with autosomal dominant isolated mitochondrial myopathy (IMMD) (MedGen UID: 863950).
The CHCHD2 gene is associated with autosomal dominant Parkinson disease 22 (PARK22) (MedGen UID: 907886).
The CHD8 gene is associated with an autosomal dominant syndrome involving overgrowth, intellectual disability, and susceptibility to autism (MedGen UID: 767287).
NO VARIANTS SHOULD BE CLASSIFIED AS VUS/LP/P; SEND BACK TO VI FOR CORRECTION IF PRESENT@@ The CHIT1 gene is associated with autosomal recessive chitotriosidase deficiency (MedGen UID: 481532). Chitotriosidase (chito) is an enzyme produced mainly by activated macrophages. Chito is extremely elevated in untreated individuals with several lysosomal storage disorders, such as Gaucher disease and Niemann-Pick disease types A, B, and C (PMID: 17869233, 26975750). Chitotriosidase elevations generally correlate with disease burden. Plasma chito levels are often utilized as a biomarker in the diagnosis and management of these individuals (PMID: 17464953, 26975750). An increasing body of evidence also exists for the utility of chitotriosidase levels in various body fluids as biomarker for other, non-lysosomal, disorders associated with inflammation and macrophage activation, such as sarcoidosis (PMID: 24594143, 31906975), interstitial lung disease (PMID: 31092718, 17631992), and neuroinflammatory or neurodegenerative disorders (PMID: 22014002, 25563799). While chito deficiency is not associated with any known clinical disease, certain variants in the CHIT1 gene lead to absent or decreased chito levels (chito deficiency), limiting the utility of chito as an accurate biomarker unless genotype is available to aid in the interpretation of results (PMID: 24831585, 26975750).
The CHMP1A gene is associated with autosomal recessive pontocerebellar hypoplasia type 8 (PCH8) (MedGen UID: 767123).
The CHMP2B gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7), previously known as amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010).
The CHRNA1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 903294, 909200). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive lethal multiple pterygium syndrome (LMPS) (MedGen UID: 381473).
The CHST14 gene is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).
The CHST3 gene is associated with autosomal recessive spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) (MedGen UID: 374477).
The CHST6 gene is associated with autosomal recessive macular corneal dystrophy (MedGen UID: 351514).
The CHSY1 gene is associated with autosomal recessive temtamy preaxial brachydactyly syndrome (TPBS) (MedGen UID: 381425).
The CHUK gene is associated with autosomal recessive cocoon syndrome, also known as Bartsocas-Papas syndrome 2 (MedGen UID: 462241, 1778443).
The CIZ1 gene is associated with autosomal dominant dystonia 23 (DYT23) (PMID: 22447717).
The CKAP2L gene is associated with autosomal recessive Filippi syndrome (MedGen UID: 163197).
The CLCN2 gene is associated with autosomal recessive leukoencephalopathy with ataxia (MedGen UID: 1638681) and autosomal dominant hyperaldosteronism (MedGen UID: 340137).
The CLCN4 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 27550844) and X-linked intellectual disability (MedGen UID: 923000).
The CLCN5 gene is associated with X-linked Dent disease complex (MedGen UID: 336322).
The CLCN7 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 370598), autosomal dominant osteopetrosis (MedGen UID: 465707), and autosomal dominant hypopigmentation, organomegaly, and delayed myelination and development (HOD) (MedGen UID: 1672512).
The CLCNKB gene is associated with autosomal recessive Bartter syndrome type 3 (BSIII) (MedGen UID: 335399) and Gitelman syndrome (PMID: 26920127, 24830959).
The CLDN1 gene is associated with autosomal recessive ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (MedGen UID: 334382).
The CLDN16 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 120640).
The CLDN19 gene is associated with autosomal recessive familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) (MedGen UID: 344503).
The TPP1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (CLN2) (MedGen UID: 406281).
The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549) and non-syndromic retinitis pigmentosa (PMID: 28542676, 24154662).
The CLN5 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 5 (CLN5) (MedGen UID: 376792). Additionally, the CLN5 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 33507209).
The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494).
The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004).
The CLP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pontocerebellar hypoplasia (PMID: 28097321, 24766809).
The CLPB gene is associated with autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 907853) and with an autosomal dominant neutropenia and neurodevelopmental syndrome (MedGen UID: 990522).
The CLPP gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 814744).
The CLPX gene is associated with autosomal dominant erythropoietic protoporphyria (MedGen UID: 1645733).
The CLTC gene is associated with autosomal dominant intellectual disability (MedGen UID: 1638835). Additionally, the CLTC gene has preliminary evidence supporting a correlation with autosomal dominant atypical Rett syndrome (PMID: 28856709).
The CNNM2 gene is associated with autosomal dominant and autosomal recessive hypomagnesemia with seizures and intellectual impairment (MedGen UID: 906582). Additionally, the CNNM2 gene has preliminary evidence supporting a correlation with autosomal dominant autism (PMID: 28191890).
The CNOT1 gene is associated with autosomal dominant neurodevelopmental disorder (MedGen UID: 977319) and with autosomal dominant holoprosencephaly with or without pancreatic agenesis (MedGen UID: 1684550).
The CNTNAP1 gene is associated with autosomal recessive lethal congenital contracture syndrome 7 (LCCS7) (MedGen UID: 894160) and congenital hypomyelinating neuropathy 3 (CHN3) (MedGen UID: 1648417).
The CNTNAP2 gene is associated with autosomal recessive intellectual disability disorders: cortical dysplasia-focal epilepsy syndrome (CDFES) (MedGen UID: 355859) and Pitt-Hopkins-like syndrome (PMID: 19896112).
The COA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive mitochondrial complex IV deficiency (PMID: 25604084).
The COA5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive cardioencephalomyopathy (PMID: 21457908).
The COA6 gene is associated with autosomal recessive cardioencephalomyopathy due to mitochondrial complex IV deficiency (MedGen UID: 388753).
The COA7 gene is associated with autosomal recessive spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) (MedGen UID: 1673607).
The COASY gene is associated with autosomal recessive COASY protein-associated neurodegeneration (CoPAN) (MedGen UID: 816560) and pontocerebellar hypoplasia, type 12 (PMID: 30089828, 35499143).
COG1 is associated with autosomal recessive COG1-congenital disorder of glycosylation (CDG-IIg) (MedGen UID 409970).
The COG2 gene is associated with autosomal recessive COG2-CDG (PMID: 24784932).
COG4 is associated with autosomal recessive COG4-congenital disorder of glycosylation (CDG-IIj) (MedGen UID: 462086) and autosomal dominant Saul-Wilson syndrome (SWILS) (MedGen UID: 722057).
COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID 462226).
COG6 is associated with autosomal recessive COG6-congenital disorder of glycosylation (CDG-IIL) (MedGen UID 766144, 815490).
The COG7 gene is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 419311).
COG8 is associated with autosomal recessive COG8-congenital disorder of glycosylation (CDG-IIh) (MedGen UID 409971).
The COL10A1 gene is associated with autosomal dominant and autosomal recessive metaphyseal chondrodysplasia, Schmid type (MCDS) (MedGen UID: 78550; PMID: 28830906, 36400164).
The COL11A1 gene is associated with autosomal dominant Stickler syndrome (MedGen UID: 347615), Marshall syndrome (MRSHS) (MedGen UID: 82694), which is considered to be a phenotypic variant of Stickler syndrome by some experts (PMID: 10486316, 17236192), and non-syndromic deafness (MedGen UID: 1676950). COL11A1 is also associated with autosomal recessive fibrochondrogenesis (MedGen UID: 82700) as well as autosomal recessive forms of Stickler and Marshall syndromes (PMID: 22499343, 23922384).
The COL11A2 gene is associated with a spectrum of related autosomal recessive conditions including nonsyndromic deafness (MedGen UID: 400602), otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 1617409), and fibrochondrogenesis (MedGen UID: 479768). COL11A2 is also associated with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293 and 120521), OSMED (also known as Weissenbacher-ZweymĆ¼ller syndrome; MedGen UID: 341234) and nonsyndromic deafness (MedGen UID: 400917).
The COL18A1 gene is associated with autosomal recessive Knobloch syndrome (MedGen UID: 1642123).
The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome (MedGen UID: 1645042, 977637), and Caffey disease (PMID: 24389367). Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).
The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359) and autosomal recessive osteogenesis imperfecta (PMID: 29572562).
The COL27A1 gene is associated with autosomal recessive Steel syndrome (MedGen UID: 767508).
The COL2A1 gene is associated with a spectrum of autosomal dominant related conditions including achondrogenesis type II (MedGen UID: 66315), avascular necrosis of the femoral head (MedGen UID: 1639295), Legg-Calve-Perthes disease (MedGen UID: 6035), multiple forms of skeletal dysplasia (MedGen UID: 324580, 75559, 331974, 387979, 163223, 147134, 412530, 905084) and Stickler syndrome, type I (MedGen UID: 810955); and autosomal recessive spondyloepiphyseal dysplasia congenita (PMID: 25060605, 26358419, 26626311). Additionally, the COL2A1 gene has preliminary evidence supporting a correlation with other forms of autosomal dominant skeletal dysplasia (MedGen UID: 377049, 140925; PMID: 12205109).
The COL3A1 gene is associated with autosomal dominant vascular Ehlers-Danlos syndrome (EDS, type 4) (MedGen UID: 82790) and autosomal recessive polymicrogyria with or without vascular EDS (MedGen UID: 1675672).
The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781). Additionally, the COL4A1 gene has preliminary evidence supporting a correlation with autosomal recessive brain small vessel disease with ocular anomalies (PMID: 32042920, 33491999).
The COL4A2 gene is associated with autosomal dominant porencephaly 2, also known as brain small vessel disease 2 (BSVD2) (MedGen UID: 482600). Additionally, the COL4A2 gene has preliminary evidence supporting a correlation with autosomal recessive leukoencephalopathy (PMID: 33912663, 36603335).
The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Additionally, the COL6A3 gene is associated with autosomal recessive dystonia 27 (DYT27) (MedGen UID: 907580).
The COL9A1 gene is associated with autosomal recessive Stickler syndrome, type IV (MedGen UID: 481571). Additionally, the COL9A1 gene has preliminary evidence supporting a correlation with dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 436517).
The COL9A2 gene is associated with autosomal recessive Stickler syndrome (MedGen UID: 481972) and autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 333092). Additionally, the COL9A2 gene has preliminary evidence supporting a correlation with susceptibility to intervertebral disc disease (PMID: 10411504).
The COL9A3 gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 322091), autosomal dominant vitreoretinal degeneration (PMID: 33633367), and autosomal recessive Stickler syndrome (PMID: 24273071). Additionally, the COL9A3 gene has preliminary evidence supporting a correlation with intervertebral disc disorder (IDD) (MedGen UID: 57852), pseudoachondroplasia (PMID: 11968079, 21922596), and autosomal dominant deafness (PMID: 15917166).
The COLEC11 gene is associated with autosomal recessive 3MC syndrome (MedGen UID: 167115).
The COLGALT1 gene is associated with autosomal recessive cerebral small vessel disease (MedGen UID: 1677948).
The COMP gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 325376) and pseudoachondroplasia (PSACH) (MedGen UID: 98378). Additionally, the COMP gene has preliminary evidence supporting a correlation with autosomal recessive PSACH (PMID: 28685811).
The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (MedGen: 452265).
The COPB2 gene is associated with early onset osteoporosis with developmental delay (PMID: 34450031). There is also preliminary evidence supporting a correlation with autosomal dominant predisposition with congenital anomalies and neurodevelopmental disorder (PMID: 10191085, 28191890, 29036432).
The COQ2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 764868).
The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081).
The COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).
The COQ7 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 852232).
The COQ8A gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 436985).
The COQ8B gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 816295).
The COQ9 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766288).
The COX10 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 75662).
The COX14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 22243966).
The COX15 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 346817).
The COX20 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The COX4I2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pancreatic insufficiency-anemia-hyperostosis syndrome (PMID: 19268275).
The COX6A1 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease D (CMTRID) (MedGen UID: 863466).
The COX6B1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The COX7B gene is associated with X-linked dominant linear skin defects with multiple congenital anomalies (LSDMCA) (MedGen UID: 763835).
The COX8A gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex IV deficiency (MedGen UID: 75662).
The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163).
The CPE gene is associated with autosomal recessive intellectual developmental disorder and hypogonadotropic hypogonadism (MedGen UID: 978769. Additionally, the CPE gene has preliminary evidence supporting a correlation with Alzheimer’s disease and depression (PMID: 27922637).
The CPLANE1 gene (formerly known as C5orf42) is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178) and orofaciodigital syndrome, type VI (OFD6) (MedGen UID: 411200).
The CPLX1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 1646846).
The CPOX gene is associated with autosomal dominant hereditary coproporphyria (HCP) (MedGen UID: 57931) and autosomal recessive harderoporphyria (MedGen UID: 137981). Biochemical testing for urinary aminolevulinic acid (ALA) and/or porphobilinogen (PBG) levels should be considered in individuals with clinical suspicion of HCP (PMID: 15767622, 26366103).
The CPS1 gene is associated with autosomal recessive carbamoyl phosphate synthetase I (CPS1) deficiency (MedGen UID: 199727).
The CPT1A gene is associated with autosomal recessive carnitine palmitoyltransferase I (CPT1) deficiency (MedGen UID: 316820).
The CPT1C gene is associated with autosomal dominant spastic paraplegia 73 (SPG73) (MedGen UID: 905874).
The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).
The CRAT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive neurodegeneration with brain iron accumulation-8 (MedGen UID: 1645224) and carnitine acetyltransferase deficiency (PMID: 31448845).
The CREB3L1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 864047). Additionally, the CREB3L1 gene has preliminary evidence supporting a correlation with autosomal dominant OI (PMID: 28817112).
The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes. The CREBBP gene is also associated with autosomal dominant Menke-Hennekam syndrome 1 (MedGen UID: 1675629).
The CRIPT gene is associated with autosomal recessive short stature with microcephaly and distinctive facies (SSMCF) (MedGen UID: 862776).
The CRLF1 gene is associated with autosomal recessive cold-induced sweating syndrome (MedGen UID: 338577).
The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).
The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989) and autosomal recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) (MedGen UID: 1678789).
The CSGALNACT1 gene is associated with an autosomal recessive skeletal dysplasia (PMID: 27599773, 31325655).
The CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).
The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (EPM1) (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy. Most cases of EPM1 are due to a dodecamer repeat expansion, which is not analyzed by this test.
The CTBP1 gene is associated with autosomal dominant hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) (MedGen UID: 1647427).
The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).
The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).
The CTNNB1 gene is associated with an autosomal dominant intellectual disability syndrome (MedGen UID: 767363) and familial exudative vitreoretinopathy (FEVR) (MedGen UID: 1626650). Additionally, the CTNNB1 gene has preliminary evidence supporting a correlation with autosomal dominant Rett-like syndrome (PMID: 28856709) and sclerosing bone dysplasia and adrenocortical neoplasia (PMID: 31970420).
The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).
The CTSA gene is associated with autosomal recessive galactosialidosis (MedGen UID: 82779). Additionally, the CTSA gene has preliminary evidence supporting a correlation with autosomal dominant cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) (PMID: 27664989, 28702507, 28334938).
The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).
The CTSF gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 13 (CLN13), also known as Kufs disease (MedGen UID: 811566). Additionally, the CTSF gene has preliminary evidence supporting a correlation with frontotemporal dementia (PMID: 27668283).
The CTSK gene is associated with autosomal recessive pycnodysostosis (MedGen UID: 116061).
The CUBN gene is associated with autosomal recessive megaloblastic anemia 1 (MGA1, also known as Imerslund-GrƤsbeck syndrome) (MedGen UID: 224934), focal segmental glomerulosclerosis (PMID: 34979989), and chronic benign proteinuria (MedGen UID: 1714078).
The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).
The CUL7 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 336440).
The CWC27 gene is associated with autosomal recessive retinitis pigmentosa with or without skeletal anomalies (RPSKA) (MedGen UID: 381579).
The CYB5R3 gene is associated with autosomal recessive methemoglobinemia due to NADH-cytochrome b5 reductase deficiency (MedGen UID: 75661).
The CYC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex III deficiency, nuclear type 6 (MC3DN6) (MedGen UID: 815883).
The CYCS gene is associated with autosomal dominant thrombocytopenia (MedGen UID: 394329).
The CYFIP2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1634676).
The CYP26B1 gene is associated with autosomal recessive radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) (MedGen UID: 482359).
The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).
The CYP27B1 gene is associated with autosomal recessive vitamin D-dependent rickets, type I (VDDR1A) (MedGen UID: 124344).
The CYP2R1 gene is associated with autosomal recessive vitamin D hydroxylation-deficient rickets type 1B (MedGen UID: 374020). Additionally, the CYP2R1 gene has preliminary evidence supporting a correlation with Vogt-Koyanagi-Harada disease (PMID: 27716192).
The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).
The CYP7A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypercholesterolemia (PMID: 12093894).
The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521) and congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).
The D2HGDH gene is associated with autosomal recessive D-2-hydroxyglutaric aciduria (MedGen UID: 463405).
The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).
The DARS gene is associated with autosomal recessive leukodystrophy: hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) (MedGen UID: 815338).
The DARS2 gene is associated with autosomal recessive leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (MedGen UID: 370845).
The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 90992).
The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).
The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).
The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 863979) and neonatal sclerosing cholangitis (NSC) (MedGen: 1393230). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).
The DCTN1 gene is associated with a spectrum of autosomal dominant neurological conditions including Perry syndrome (MedGen UID: 357007), distal hereditary motor neuropathy type VIIB (HMN7B) (MedGen UID: 375157), and amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169).
The DCX gene is associated with X-linked lissencephaly and subcortical band heterotopia (SBH) (MedGen UID: 1644310).
The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945).
The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174). Additionally, the DDHD1 gene has preliminary evidence supporting a correlation with juvenile amyotrophic lateral sclerosis (JALS) (PMID: 27999540).
The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).
The DDOST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive DDOST-congenital disorder of glycosylation (CDG-Ir) (PMID: 22305527).
The DDR2 gene is associated with autosomal recessive spondylometaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) (MedGen UID: 338595).
The DDRGK1 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia (MedGen UID: 400703).
The DDX3X gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 897961).
The DDX59 gene is associated with autosomal recessive oral-facial-digital syndrome (OFD) (MedGen UID: 358131).
The DEAF1 gene is associated with autosomal dominant and autosomal recessive neurodevelopmental disorders (MedGen UID: 862851, 934650).
The DECR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with 2,4-dienoyl-CoA reductase 1 deficiency (PMID: 2332510, 24847004).
The DEGS1 gene is associated with autosomal recessive hypomyelinating leukodystrophy (HLD) (MedGen UID: 941380).
The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 1641798) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432274). It is also associated with autosomal recessive early-onset epilepsy with macrocephaly and bilateral polymicrogyria (PMID: 36067010).
The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998). Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351).
The DGKZ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive atypical cerebral palsy (PMID: 30542205).
The DGUOK gene is associated with a spectrum of autosomal recessive mitochondrial disorders including mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOB4) (MedGen UID: 934700).
The DHCR24 gene is associated with autosomal recessive desmosterolosis (MedGen UID: 400801).
The DHCR7 gene is associated with autosomal recessive Smith-Lemli-Opitz syndrome (SLOS) (Medgen UID: 61231).
The DHDDS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462577) and autosomal dominant developmental and epileptic encephalopathy syndrome (MedGen UID: 1641343). In addition, there is preliminary evidence supporting a correlation with DHDDS-congenital disorder of glycosylation (CDG-Ibb) (PMID: 27343064).
The DHFR gene is associated with autosomal recessive megaloblastic anemia due to dihydrofolate reductase deficiency (MedGen UID: 462555).
The DHODH gene is associated with autosomal recessive Miller syndrome (MedGen UID: 120522).
The DHTKD1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) (MedGen UID: 767280) and amyotrophic lateral sclerosis (ALS) (MedGen UID: 274). The DHTKD1 gene is also associated with autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) (MedGen UID: 395350), a biochemical phenotype which may or may not result in a clinical condition. Additionally, the DHTKD1 gene has preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 29127259).
The DHX37 gene is associated with an autosomal recessive neurodevelopmental disorder (MedGen UID: 1684772) and with autosomal dominant disorders of sex development (MedGen UID: 78602). Additionally, the DHX37 gene has preliminary evidence supporting a correlation with an autosomal dominant neurodevelopmental disorder (PMID: 31256877).
The DIP2C gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 28263302, 22542183, 25363768) and autosomal recessive skeletal dysplasia (PMID: 29620724).
The DLAT gene is associated with autosomal recessive pyruvate dehydrogenase E2 (PDHE2) deficiency (MedGen UID: 343386).
The DLD gene is associated with autosomal recessive dihydrolipoamide dehydrogenase (DLD) deficiency (MedGen UID: 449386).
The DLL1 gene is associated with an autosomal dominant neurodevelopmental disorder with brain malformations (MedGen UID: 946090). Additionally, the DLL1 gene has preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 31275352, 26801181).
The DLL3 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 834049).
The DLL4 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 908556).
The DLX3 gene is associated with autosomal dominant trichodentoosseous syndrome (TDO) (MedGen UID: 78555). Additionally, the DLX3 gene has preliminary evidence supporting a correlation with autosomal dominant amelogenesis imperfecta (PMID: 15666299, 9874789).
The DLX5 gene is associated with autosomal dominant split-hand/foot malformation (MedGen UID: 419314).
The DLX6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split-hand/foot malformation type 1 (PMID: 28611547).
The DMD gene is associated with X-linked Duchenne Muscular Dystrophy (DMD) (MedGen UID: 3925), Becker Muscular Dystrophy (BMD) (MedGen UID: 182959) and dilated cardiomyopathy 3B (CMD3B) (MedGen UID: 777148).
The DMP1 gene is associated with autosomal recessive hypophosphatemic rickets (ARHR) (MedGen UID: 137975).
The DMRT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 29681102)
The DMXL2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 945899). Additionally, the DMXL2 gene has preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 1621646), as well as a spectrum of autosomal dominant and recessive neurodevelopmental disorders (PMID: 25248098, 28191890, 28856709).
The DNA2 gene is associated with autosomal dominant progressive external ophthalmoplegia (PEO) with mitochondrial deletions (MedGen UID: 767513) and autosomal recessive Seckel syndrome (SCKL) (MedGen UID: 786079).
The DNAJC12 gene is associated with autosomal recessive hyperphenylalaninemia (MedGen UID: 910649).
The DNAJC19 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type V (MedGen UID: 347542).
The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4) (MedGen UID: 320287).
The DNAJC6 gene is associated with autosomal recessive juvenile-onset Parkinson disease 19 (PARK19) (MedGen UID: 816141).
The DNM1L gene is associated with autosomal dominant and autosomal recessive encephalopathy due to defective mitochondrial and peroxisomal fission 1 and autosomal dominant optic atrophy 5 (MedGen UIDs: 482290; 377837).
The DNM2 gene is associated with autosomal dominant centronuclear myopathy (CNM1) (MedGen UID: 322437) and dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).
The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 813625).
The DNMT3A gene is associated with autosomal dominant Tatton-Brown-Rahman syndrome (MedGen UID: 786449) and autosomal dominant Heyn-Sproul-Jackson syndrome (MedGen UID: 1684743).
The DOCK6 gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGen UID: 481812).
The DOCK7 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862929).
The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).
The DONSON gene is associated with autosomal recessive microcephaly-micromelia syndrome (MedGen UID: 381553).
The DPAGT1 gene is associated with autosomal recessive congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559) and DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 419694).
The DPF2 gene is associated with autosomal dominant Coffin-Siris syndrome (CSS) (MedGen UID: 1648281).
The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).
The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).
The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).
The DPYS gene is associated with autosomal recessive dihydropyrimidinase (DPYS) deficiency (MedGen UID: 83353).
The DSE gene is associated with autosomal recessive Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2, MedGen UID: 356497).
The DVL1 gene is associated with autosomal dominant Robinow syndrome (ADRS) (MedGen UID: 897039).
The DVL3 gene is associated with autosomal dominant Robinow syndrome (ADRS) (MedGen UID: 907878).
The DYM gene is associated with autosomal recessive Dyggve-Melchior-Clausen syndrome (DMC) (MedGen UID: 120527) and Smith-McCort dysplasia (MedGen UID: 854757).
The DYNC1H1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) (MedGen UID: 481850), lower extremity predominant spinal muscular atrophy 1 (SMALED1) (MedGen UID: 322470), and complex cortical dysplasia with brain malformations (MedGen UID: 482832).
The DYNC1I1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split-hand/foot malformation (PMID: 25332435, 24459211, 25231166).
The DYNC2H1 gene is associated with autosomal recessive short-rib polydactyly syndrome, also known as asphyxiating thoracic dystrophy (MedGen UID: 462535), and nonsyndromic retinitis pigmentosa (PMID: 32753734).
The DYNC2LI1 gene is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 934691).
The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).
The DYRK1B gene is associated with autosomal dominant abdominal obesity-metabolic syndrome 3 (AOMS3) (MedGen UID: 1640883).
The EARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 12 (COXPD12) (MedGen UID: 766993).
The EBP gene is associated with X-linked dominant chondrodysplasia punctata type II (CDPX2) (MedGen UID: 79381), and X-linked recessive male EBP disorder with neurological defects (MEND) (MedGen UID: 905986).
The ECHS1 gene is associated with autosomal recessive mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (MedGen UID 833076).
The EDNRB gene is associated with autosomal recessive and autosomal dominant Waardenburg syndrome type 4A (WS4A) (MedGen UID: 341244). Additionally, the EDNRB gene has preliminary evidence supporting a correlation with autosomal dominant Hirschsprung disease susceptibility (MedGen UID: 374002).
The EEF2 gene is associated with autosomal dominant spinocerebellar ataxia 26 (SCA26) (MedGen UID: 373077) and an autosomal dominant neurodevelopmental disorder (PMID: 33355653).
The EFNA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant craniosynostosis (PMID: 16540516, 29168297, 29215649).
The EFNB1 gene is associated with X-linked craniofrontonasal syndrome (CFNS) (MedGen UID: 65095). EFNB1-related craniofrontonasal syndrome appears to affect heterozygous females and mosaic males while carrier males may appear unaffected or have only hypertelorism (PMID: 16685650).
The EGF gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive renal hypomagnesmia (MedGen UID: 388692) and autosomal dominant isolated hypogonadotropic hypogonadism (PMID: 30098700).
The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).
The EIF2AK1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant neurodevelopmental disorder (PMID: 31785789, 32197074).
The EIF2AK2 gene is associated with an autosomal dominant leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (MedGen UID: 1719567).
The EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).
The EIF2B1 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).
The EIF2B2 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (VWM) (MedGen UID: 347037).
The EIF2B3 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (LVWM) (MedGen UID: 347037).
The EIF2B4 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).
The EIF2B5 gene is associated with autosomal recessive leukoencephalopathy with vanishing white matter (MedGen UID: 347037).
The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 17 (COXPD17) (MedGen UID: 815856, 1668540).
The ELOVL1 gene is associated with autosomal dominant ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features (IKSHD)(MedGen UID: 1682428).
The ELOVL4 gene is associated with autosomal dominant Stargardt-like macular degeneration (MedGen UID: 333146), autosomal dominant spinocerebellar ataxia 34 (also known as erythrokeratodermia with ataxia) (MedGen UID: 338703), and autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (ISQID) (MedGen UID: 482486).
The ELOVL5 gene is associated with autosomal dominant spinocerebellar ataxia 38 (SCA38) (MedGen UID: 1379865).
The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (MedGen UID: 442873).
The ENPP1 gene is associated with autosomal recessive hypophosphatemic rickets 2 (ARHR2) (MedGen UID: 442380), generalized arterial calcification of infancy type 1 (GACI1) (MedGen UID: 395331), and autosomal dominant Cole disease (COLED) (MedGen UID: 816111). Additionally, the ENPP1 gene has preliminary evidence supporting a correlation with autosomal recessive Cole disease (PMID: 28964717).
The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619).
The EOGT gene is associated with autosomal recessive Adams-Oliver syndrome (AOS) (MedGenUID: 815422).
The EP300 gene is associated with autosomal dominant Rubinstein-Taybi syndrome (MedGen UID: 462291).
The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).
The EPHA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atypical cerebral palsy (PMID: 30542205).
The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).
The EPRS gene is associated with autosomal recessive hypomyelinating leukodystrophy (MedGen UID: 1633653).
The ERCC1 gene is associated with autosomal recessive Cockayne syndrome (PMID: 33315086, 23623389, 17273966). Additionally, the ERCC1 gene has preliminary evidence supporting a correlation with autosomal recessive xeroderma pigmentosum (MedGen UID: 468518).
The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).
The ERCC3 gene is associated with autosomal recessive xeroderma pigmentosum (XP)(MedGen UID: 21943) and autosomal recessive Cockayne syndrome (MedGen UID: 40363). Additionally, the ERCC3 gene has preliminary evidence supporting a correlation with autosomal recessive trichothiodystrophy (MedGen UID: 363064).
The ERCC6 gene is associated with autosomal recessive Cockayne syndrome B (MedGen UID: 155487) and cerebrooculofacioskeletal syndrome (MedGen UID: 66320). Additionally, the ERCC6 gene has preliminary evidence supporting a correlation with autosomal dominant primary ovarian insufficiency (MedGen UID: 38820).
The ERCC8 gene is associated with autosomal recessive Cockayne syndrome type A (MedGen UID: 155488) and UV-sensitive syndrome (MedGen UID: 766212).
The ERF gene is associated with autosomal dominant craniosynostosis (MedGen UID: 468569) and Chitayat syndrome (MedGen UID: 934646).
The ERLIN1 gene is associated with autosomal recessive hereditary spastic paraplegia 62 (SPG62) (MedGen UID: 924879). Additionally, the ERLIN1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis (ALS) (PMID: 29453415).
The ERLIN2 gene is associated with autosomal dominant hereditary spastic paraplegia (HSP) (PMID: 29528531, 32094424) and autosomal recessive hereditary spastic paraplegia 18 (SPG18) (MedGen UID: 442343).
The ESCO2 gene is associated with autosomal recessive Roberts-SC phocomelia syndrome (RBS) (MedGen UID: 95931).
The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).
The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).
The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).
ETHE1 is associated with autosomal recessive ethylmalonic encephalopathy (MedGen UID: 355966).
The EVC gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584). Additionally, the EVC gene has preliminary evidence supporting a correlation with autosomal dominant Weyers acrodental dysostosis (PMID: 7628126, 30076350).
The EVC2 gene is associated with autosomal recessive Ellis-van Creveld syndrome (EvC) (MedGen UID: 8584), and autosomal dominant Weyers acrodental dysostosis (WAD) (MedGen UID: 141594).
The EXOC6B gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia with joint laxity, type 3 (MedGen UID: 1677378).
The EXOSC2 gene is associated with autosomal recessive short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) (MedGen UID: 1615526).
The EXOSC3 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1B (MedGen UID: 766363). Additionally, the EXOSC3 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 23975261, 25149867).
The EXOSC8 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1C (MedGen UID: 808034).
The EXOSC9 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 1D (PCH1D) (MedGen UID: 1648387).
The EXT1 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 4612), previously called hereditary multiple exostoses.
The EXT2 gene is associated with autosomal dominant hereditary multiple osteochondromas (HMO) (MedGen UID: 377018, previously called hereditary multiple exostoses). EXT2 is also associated with an autosomal recessive neurodevelopmental condition (MedGen UID: 909039).
The EXTL3 gene is associated with autosomal recessive EXTL3 deficiency (MedGen UID: 1381460).
The FA2H gene is associated with autosomal recessive fatty acid hydroxylase-associated neurodegeneration (FAHN) (MedGenUID: 777150) and hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 501249).
The FAH gene is associated with autosomal recessive tyrosinemia type 1 (MedGen UID: 75688).
The FAM111A gene is associated with autosomal dominant Gracile bone dysplasia (MedGen UID: 356331) and Kenny-Caffey syndrome (KCS) (MedGen UID: 1373312).
The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).
The FAM20C gene is associated with autosomal recessive Raine syndrome (RNS) (MedGen UID: 342416).
The FAM46A gene (also known as TENT5A) is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 1635201).
The FAR1 gene is associated with autosomal recessive peroxisomal fatty acyl-CoA reductase 1 deficiency (MedGen UID: 863781) and an autosomal dominant neurological disorder (PMID: 33239752).
The FARS2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 22833457, 25851414, 27652284) and hereditary spastic paraplegia 77 (SPG77) (MedGen UID: 934717).
The FARSB gene is associated with autosomal recessive Rajab interstitial lung disease with brain calcifications (RILDBC) (MedGen UID: 462260).
The FASTKD2 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The FAT1 gene is associated with autosomal recessive colobomatous microphthalmia, ptosis, and cutaneous syndactyly with or without glomerulotubular nephropathy (PMID: 30862798). Additionally, the FAT1 gene has preliminary evidence supporting a correlation with spinocerebellar ataxia (PMID: 29053796) and congenital anomalies of the kidneys and urinary tract (CAKUT) (PMID: 26489027).
The FAT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia 45 (SCA45) (MedGen UID: 1622156).
The FAT4 gene is associated with autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome (MedGen UID: 863376) and Van Maldergem syndrome (MedGen UID: 816205).
The FBLN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive synpolydactyly (MedGen UID: 331290) and autosomal dominant Fechtner syndrome (PMID: 14635206).
The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysm and aortic dissection (MedGen UID: 1644766), isolated ectopia lentis (MedGen UID: 762106), stiff skin syndrome (MedGen UID: 348877), Weill-Marchesani syndrome 2 (MedGen UID: 358388), geleophysic dysplasia 2 (MedGen UID: 481684), acromicric dysplasia (MedGen UID: 78549) and Marfan lipodystrophy syndrome (MedGen UID: 934763).
The FBN3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 29156830) and arthrogryposis (PMID: 26752647).
The FBP1 gene is associated with autosomal recessive fructose-1,6-bisphosphatase deficiency (MedGen UID: 42106).
The FBXL4 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 13 (MTDPS13), encephalomyopathic type (MedGen UID: 815922).
The FBXO7 gene is associated with autosomal recessive Parkinson disease 15 (PARK15) (MedGen UID: 337969).
The FBXW4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive split hand-split foot malformation (PMID: 23596994) and autosomal recessive radial ray defects (PMID: 22995989).
The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484).
The FECH gene is associated with autosomal recessive erythropoietic protoporphyria (MedGen UID: 1643471).
The FGF10 gene is associated with autosomal dominant lacrimoauriculodentodigital (LADD) syndrome (MedGen UID: 78545) and aplasia of lacrimal and salivary glands (ALSG) (MedGen UID: 57641).
The FGF12 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934652). Additionally, the FGF12 gene has preliminary evidence supporting a correlation with autosomal recessive developmental and epileptic encephalopathy (PMID: 37286232).
The FGF14 gene is associated with autosomal dominant spinocerebellar ataxia 27 (SCA27) (MedGen UID: 373075).
The FGF23 gene is associated with autosomal dominant hypophosphatemic rickets (ADHR) (MedGen UID: 83346), and autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297).
The FGF9 gene is associated with autosomal dominant multiple synostoses syndrome (MedGen UID: 414116).
The FGFR1 gene is associated with autosomal dominant Kallmann syndrome 2 (MedGen UID: 289648), craniosynostosis (MedGen UID: 350148), Hartsfield syndrome (MedGen UID: 335111) and osteoglophonic dysplasia (MedGen UID: 96592). Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909).
The FGFR2 gene is associated with autosomal dominant forms of craniosynostosis including Apert syndrome (MedGen UID: 7858), Crouzon syndrome (MedGen UID: 914990), Jackson-Weiss syndrome (MedGen UID: 208653), Pfeiffer syndrome (MedGen UID: 350148), and Beare-Stevenson syndrome (MedGen UID: 377668); bent bone dysplasia (MedGen UID: 482877); and Lacrimo-Auriculo-Dento-Digital Syndrome (LADD) (MedGen UID: 78545). Additionally, the FGFR2 gene has preliminary evidence supporting a correlation with autosomal recessive ectrodactyly and acinar dysplasia (PMID: 27323706).
The FGFR3 gene is associated with autosomal dominant skeletal dysplasias (MedGen UID: 1289, 98376, 358383) and craniosynostosis (MedGen UID: 355217, 394201). Other FGFR3-related conditions have been reported (OMIM: 134934).
The FGFRL1 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive arthrogryposis (PMID: 31230720).
The FH gene is associated with autosomal dominant FH tumor predisposition syndrome (MedGen UID: 353771) and autosomal recessive fumarate hydratase deficiency (FHD) (MedGen UID: 87458).
The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808), Yunis-Varon syndrome (MedGen UID: 341818), and a FIG4-related neurodevelopmental condition (PMID: 36529678, 30740813, 32385905). In addition, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (MedGen UID: 393399).
The FKBP10 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 462568) and Bruck syndrome (MedGen UID: 342431).
The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580).
The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585).
The FLAD1 gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency due to flavin adenine dinucleotide synthetase deficiency (MedGen UID: 934789).
The FLNA gene is associated with X-linked periventricular heterotopia (MedGen UID: 376309) with or without Ehlers-Danlos features (MedGen UID: 375610) or interstitial lung disease (ILD) (PMID: 28898549), otopalatodigital spectrum disorders (MedGen UID: 433163), congenital short bowel syndrome (MedGen UID:Ā 412536), and cardiac valvular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).
The FLNB gene is associated with autosomal dominant atelosteogenesis type I (AOI) (MedGen UID: 82701), atelosteogenesis type III (AOIII) (MedGen UID: 777149), boomerang dysplasia (MedGen UID: 96579), Piepkorn osteochondrodysplasia (PMID: 29797497), Larsen syndrome (MedGen UID: 320634), and autosomal recessive spondylocarpotarsal synostosis syndrome (SCT) (MedGen UID: 341339). Additionally, the FLNB gene has preliminary evidence supporting a correlation with autosomal dominant congenital talipes equinovarus (PMID: 27395407) and autosomal recessive skeletal dysplasia with co-existing 46,XY gonadal dysgenesis (PMID: 29095481).
The FLVCR2 gene is associated with autosomal recessive proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) (MedGen UID: 384026).
The FMN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive complex developmental phenotype characterized by limb deformities, renal defects, and deafness (PMID: 20610440).
The FN1 gene is associated with autosomal dominant glomerulopathy with fibronectin deposits (GFND) (MedGen UID: 356149) and spondylometaphyseal dysplasia – corner fracture type (MedGen UID: 98146).
The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).
The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748), Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534), primary congenital glaucoma (PCG) (PMID: 30653210), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 32475988).
The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).
The FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID: 83339).
The FOXRED1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) (MedGen UID: 374101).
The FRAS1 gene is associated with autosomal recessive Fraser syndrome (Medgen UID: 82692).
The FREM1 gene is associated with autosomal recessive Manitoba oculo-tricho-anal (MOTA) syndrome (MedGen UID: 383680) and bifid nose with or without anorectal and renal anomalies (BNAR) syndrome (MedGen UID: 413305). Additionally, the FREM1 gene has preliminary evidence supporting a correlation with autosomal dominant trigonocephaly (PMID: 21931569) and autosomal recessive hydrocephalus and short-limbed dwarfism (PMID: 28622873).
The FREM2 gene is associated with autosomal recessive Fraser syndrome (MedGenUID: 1624349).
The FRRS1L gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934737).
The FTCD gene is associated with autosomal recessive glutamate formiminotransferase deficiency (MedGen UID 82823), a biochemical phenotype which may or may not result in a clinical condition.
The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (MedGen UID: 816420).
The FTO gene is associated with autosomal recessive growth retardation, developmental delay, and facial dysmorphism (GDFD) (MedGen UID: 414158).
The FUCA1 gene is associated with autosomal recessive fucosidosis (MedGen UID: 5288)
The FCSK gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with a congenital disorder of glycosylation with defective fucosylation (MedGen UID: 1647704).
The FUT8 gene is associated with autosomal recessive congenital disorder of glycosylation due to defective fucosylation (FUT8-CDG) (MedGen UID: 941256).
The FXYD2 gene is associated with autosomal dominant hypomagnesemia (MedGen UID: 320542).
The FZD2 gene is associated with autosomal dominant Robinow syndrome (MedGen UID: 413823).
The G6PC gene is associated with autosomal recessive glycogen storage disease type Ia (GSDIa) (MedGen UID: 433536).
The G6PC3 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 436454).
The G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 403555).
The GAA gene is associated with autosomal recessive Pompe disease, also known as glycogen storage disease type II (GSDII) (MedGen UID: 5340).
The GABBR2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1633749) and Rett syndrome (PMID: 28856709).
The GABRA1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).
The GABRA2 gene is associated with autosomal dominant developmental and epileptic encephalopathy (MedGen UID: 1684724).
The GABRB1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934658).
The GABRB2 gene is associated with autosomal dominant intellectual disability and epilepsy (PMID: 27622563, 27789573, 29100083).
The GABRB3 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934679), generalized epilepsy with febrile seizures plus, and familial febrile seizures (PMID: 28053010). Additionally, the GABRB3 gene has preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654) and a correlation with autosomal recessive early infantile epileptic encephalopathy (PMID: 35718920).
The GABRG2 gene is associated with autosomal dominant childhood absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1680535).
The GAD1 gene is associated with autosomal recessive developmental and epileptic encephalopathy (MedGen UID: 978184). Additionally, the GAD1 gene has preliminary evidence supporting a correlation with autosomal recessive spastic quadriplegic cerebral palsy 1 (CPSQ1) (MedGen UID: 442852).
The GALC gene is associated with autosomal recessive Krabbe disease (MedGen UID: 44131).
The GALE gene is associated with autosomal recessive epimerase deficiency galactosemia (MedGen UID: 199598). Additionally, the GALE gene has preliminary evidence supporting a correlation with autosomal recessive thrombocytopenia (PMID: 30247636).
The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).
The GALM gene is associated with autosomal recessive mutarotase deficiency galactosemia (PMID: 30451973, 30910422).
The GALNS gene is associated with autosomal recessive mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A (MedGen UID: 43375).
The GALNT3 gene is associated with autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC) (MedGen UID: 360297)
The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772). The Duarte variant, c.-119_-116del, is the most common GALT variant (PMID: 19904210) and, if present, is reported in the Complete Results table. Familial variant testing is available upon request.
The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).
The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).
The GANAB gene is associated with autosomal dominant polycystic kidney disease (MedGen UID: 854672). Additionally, the GANAB gene has preliminary evidence supporting a correlation with congenital heart defect and neurodevelopmental disorder (PMID: 26785492).
The GARS gene is associated with a spectrum of autosomal dominant axonal neuropathies (MedGen UID: 468432) including Charcot-Marie-Tooth disease type 2D (CMT2D) (MedGen UID: 316946), also referred to as distal hereditary motor neuropathy 5 (HMN5) (MedGen UID: 318838) or infantile spinal muscular atrophy, James type (SMAJI) (MedGen UID: 978273). Additionally, the GARS gene is associated with autosomal recessive multisystem disorders (PMID: 28675565, 24669931).
The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).
The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).
The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933) and autosomal dominant dilated cardiomyopathy (PMID: 25119427, 35962153). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).
The GATAD2B gene is associated with an autosomal dominant syndrome involving intellectual disability, delayed myelination, seizures and dysmorphic features (MedGen UID: 767362).
The GATM gene is associated with autosomal dominant renal Fanconi syndrome with kidney failure (PMID: 29654216) and autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).
The GBA gene is associated with autosomal recessive Gaucher disease (MedGen UID: 409531). Additionally, GBA is associated with an increased risk for autosomal dominant late-onset Parkinson disease (MedGen UID: 463618).
The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687).
The GBE1 gene is associated with autosomal recessive glycogen storage disease IV (GSD IV) (MedGen UID: 6642) and autosomal recessive adult polyglucosan body disease (APBD) (MedGen UID: 342338).
The GCDH gene is associated with autosomal recessive glutaric acidemia type I (MedGen UID: 124337).
The GCGR gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive glucagon receptor defect (MedGen UID: 1677024).
The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121), and autosomal recessive BH4-deficient hyperphenylalaninemia, also known as GTP cyclohydrolase I deficiency (MedGen UID: 75683).
The GCK gene is associated with autosomal dominant hyperinsulinemic hypoglycemia (MedGen UID: 355435), maturity-onset diabetes of the young (MODY) (MedGen UID: 330729) and autosomal recessive premature neonatal diabetes mellitus (PNDM) (MedGen UID: 371484).
The GCLC gene is associated with autosomal recessive hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (MedGen UID: 347272).
The GCSH gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GDAP1 gene is associated with autosomal dominant and recessive forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113).
The GDF5 gene is associated with autosomal dominant brachydactyly (MedGen UID: 350590) and symphalangism (MedGen UID: 815434), and autosomal recessive Grebe syndrome (MedGen UID: 75557), acromesomelic dysplasia, Hunter-Thompson type (AMDH) (MedGen UID: 419681), and Du Pan syndrome (MedGen UID: 346432).
The GDF6 gene is associated with autosomal dominant multiple synostoses syndrome (MedGen UID: 90977). Additionally, the GDF6 gene has preliminary evidence supporting a correlation with autosomal dominant Klippel-Feil syndrome (KFS) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 811616), autosomal dominant isolated microphthalmia (MCOP) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma (MCOPCB) (MedGen UID: 462318).
The GFAP gene is associated with autosomal dominant Alexander disease (MedGen UID: 78724). Additionally, the GFAP gene has preliminary evidence supporting a correlation with autosomal recessive Alexander disease (PMID: 32374915).
The GFER gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 416525).
The GFM1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (COXPD) (MedGen UID: 322999).
The GFM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leigh syndrome (MedGen UID: 941331).
The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).
The GH1 gene is associated with autosomal recessive and autosomal dominant forms of growth hormone deficiency (MedGen UID: 90986 and 124405)
The GHR gene is associated with autosomal recessive Laron syndrome (MedGen UID: 78776) and autosomal dominant growth hormone insensitivity syndrome (GHIS) (MedGen UID: 346958).
The GHRHR gene is associated with autosomal recessive isolated growth hormone deficiency (MedGen UID: 1648300).
The GHSR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant short stature due to GHSR deficiency (MedGen UID: 1633096) and autosomal recessive isolated growth hormone deficiency (PMID: 19789204).
The GIF gene is associated with autosomal recessive intrinsic factor deficiency (MedGen UID: 235598).
The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).
The GJB1 gene (also known as Connexin 32 or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290).
The GJC2 gene is associated with autosomal dominant hereditary lymphatic malformation type 3 (LMPHM3) (MedGen UID: 1652857). The GJC2 gene is also associated with a spectrum of autosomal recessive neurological conditions including hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2), which is also referred to as Pelizaeus-Merzbacher-like disease (MedGen UID: 325157).
The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).
The GLB1 gene is associated with autosomal recessive GM1 gangliosidosis (MedGen UID: 468425) and mucopolysaccharidosis, type IVB (MPS IVB, also known as Morquio B) (MedGen UID: 43376).
The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).
The GLI2 gene is associated with autosomal dominant Culler-Jones syndrome (MedGen UID: 862916) and autosomal dominant holoprosencephaly (MedGen UID 324369). Additionally, the GLI2 gene has preliminary evidence supporting a correlation with autosomal dominant septo-optic dysplasia (PMID: 25056824).
The GLI3 gene is associated with autosomal dominant Greig cephalopolysyndactyly syndrome (MedGen UID: 120531), Pallister-Hall syndrome (MedGen UID: 120514) and polydactyly (MedGen UID: 67394, 357420), and autosomal recessive Pallister-Hall-like syndrome (PMID: 32112393).
The GLIS3 gene is associated with autosomal recessive neonatal diabetes mellitus with congenital hypothyroidism (NDH) (MedGen UID: 347541). Additionally, the GLIS3 gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28472652).
The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).
The GLRB gene is associated with autosomal recessive hyperekplexia 2 (HKPX2) (MedGen UID: 766205).
The GLRX5 gene is associated with autosomal recessive congenital sideroblastic anemia (MedGen UID: 895975). Additionally, the GLRX5 gene has preliminary evidence supporting a correlation with childhood-onset spasticity with hyperglycinemia (MedGen UID: 905660)
The GLUD1 gene is associated with autosomal dominant familial hyperinsulinism-hyperammonemia (HI/HA) syndrome (MedGen UID: 376153).
The GLUL gene is associated with autosomal recessive glutamine synthetase deficiency (PMID: 16267323, 21353613).
The GLYCTK gene is associated with autosomal recessive D-glyceric aciduria (MedGen UID: 226941).
The GM2A gene is associated with autosomal recessive GM2-gangliosidosis, AB variant, also known as GM2 activator deficiency (MedGen UID: 78657).
The GMNN gene is associated with autosomal dominant Meier-Gorlin syndrome (MedGen UID: 905079).
The GMPPA gene is associated with autosomal recessive GMPPA-CDG (also known as alacrima, achalasia and intellectual disability syndrome [AAID]) (MedGen UID: 816068).
The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507), and autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).
The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).
The GNAO1 gene is associated with an autosomal dominant spectrum of conditions including developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697).
The GNAS gene is associated with autosomal dominant progressive osseous heteroplasia (MedGen UID: 137714), pseudohypoparathyroidism Ia (MedGen UID: 46178), and pseudopseudohypoparathyroidism (MedGen UID: 10995). Postzygotic somatic mutations in the GNAS gene are associated with McCune-Albright syndrome (MedGen UID: 69164). This assay is not intended for disorders of somatic mosaicism.
The GNB1 gene is associated with autosomal dominant intellectual disability 42 (MedGen UID: 934741).
The GNE gene is associated with autosomal dominant sialuria (MedGen UID: 137980) and autosomal recessive GNE-related myopathy (MedGen UID: 381298).
The GNMT gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive glycine N-methyltransferase (GNMT) deficiency (MedGen UID: 338300).
The GNPAT gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 2 (RCDP2) (MedGen UID: 341734).
The GNPTAB gene is associated with autosomal recessive mucolipidosis type II alpha/beta (ML II), previously known as I-cell disease or Pacman dysplasia (MedGen UID: 435914), and mucolipidosis type III alpha/beta (ML III), previously known as pseudo-Hurler polydystrophy (MedGen UID: 10988).
The GNPTG gene is associated with autosomal recessive mucolipidosis type III gamma (ML III gamma) (MedGen UID: 340743).
The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).
The GORAB gene is associated with autosomal recessive geroderma osteodysplastica (MedGen UID: 98149).
The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257). Additionally, the GOSR2 gene has preliminary evidence supporting a correlation with autosomal recessive muscular dystrophy and developmental delay (PMID: 29855340, 25326637).
The GOT2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (EIEE) (MedGen UID: 483052).
The GPAA1 gene is associated with an autosomal recessive congenital disorder of glycosylation (GPAA1-CDG) (MedGen UID: 1615160).
The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).
The GPC6 gene is associated with autosomal recessive omodysplasia (MedGen UID: 340513).
The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940).
The GPR101 gene is associated with X-linked acrogigantism, which usually results from a common Xq26.3 microduplication that includes GPR101 (MedGen UID: 856021, PMID: 27245663).
The GPR88 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive childhood onset chorea with psychomotor impairment (MedGen UID: 934754).
The GPX4 gene is associated with autosomal recessive spondylometaphyseal dysplasia, Sedaghatian type (MedGen UID: 340816, PMID: 32827718, 24706940).
The GRHPR gene is associated with autosomal recessive primary hyperoxaluria, type 2 (PH2) (MedGen UID: 120616).
The GRIA3 gene is associated with X-linked intellectual disability (MedGen UID: 1675094) and early infantile epileptic encephalopathy (PMID: 34161333, 35031858).
The GRID2 gene is associated with autosomal recessive spinocerebellar ataxia 18 (SCAR18) (MedGen UID: 863942). Additionally, the GRID2 gene has preliminary evidence supporting a correlation with autosomal dominant ataxia (PMID: 25841024).
The GRIN1 gene is associated with autosomal dominant and autosomal recessive developmental and epileptic encephalopathy (MedGen UIDs: 990128, 1646665), and autosomal dominant intellectual disability (MedGen UID: 481912).
The GRIN2B gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).
The GRIN2D gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934654).
The GRM1 gene is associated with autosomal dominant spinocerebellar ataxia 44 (SCA44) (MedGen UID: 1611168) and with autosomal recessive spinocerebellar ataxia 13 (SCAR13) (MedGen UID: 766730).
The GRM7 gene is associated with autosomal recessive leukodystrophy (PMID: 28097321, 27435318). Additionally, the GRM7 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 30315573).
The GRN gene is associated with autosomal dominant GRN-related frontotemporal dementia (FTD-GRN) (MedGen UID: 375285) and autosomal recessive neuronal ceroid lipofuscinosis type 11 (CLN11) (MedGen UID: 761331).
The GSC gene is associated with autosomal recessive short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) (MedGen UID: 355971). Additionally, the GSC gene has preliminary evidence supporting a correlation with autosomal dominant microtia (PMID: 19935299).
The GSS gene is associated with autosomal recessive glutathione synthetase deficiency (MedGen UID: 97988).
The GTF2H5 gene is associated with autosomal recessive trichothiodystrophy (TTD) (MedGen UID: 865608).
The GTPBP2 gene is associated with autosomal recessive Jaberi-Elahi syndrome (MedGen UID: 1647359).
The GTPBP3 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 23 (COXPD23) (MedGen UID: 863884).
The GUSB gene is associated with autosomal recessive mucopolysaccharidosis type VII (MPS VII, also known as Sly syndrome) (MedGen UID: 43108).
The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889).
The GYG2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked Leigh syndrome (PMID: 24100632).
The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).
The GYS2 gene is associated with autosomal recessive liver glycogen storage disease 0A (GSD 0A, liver isoform) (MedGen UID: 343430).
The GZF1 gene is associated with autosomal recessive Larsen syndrome (PMID: 28475863).
The HACE1 gene is associated with autosomal recessive spastic paraplegia and psychomotor disabilities with or without seizures (SPPRS) (MedGen UID: 897828).
The HADH gene is associated with autosomal recessive medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) (MedGen UID: 266222).
The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 778253) and autosomal recessive mitochondrial trifunctional protein (MTP) deficiency (MedGen UID: 370665).
The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 370665).
The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 898344) and autosomal recessive Usher syndrome type IIIB (MedGen UID: 482696). Additionally, the HARS gene has preliminary evidence supporting a correlation multi-system ataxic syndrome (PMID: 32333447).
The HARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 767019).
The HCCS gene is associated with X-linked dominant microphthalmia with linear skin defects (MLS) syndrome (MedGen ID: 163210).
The HCFC1 gene is associated with X-linked recessive methylmalonic acidemia and homocysteinemia due to cobalamin X deficiency, also known as X-linked intellectual disability 3 (IDX3) (MedGen UID: 167111).
The HCN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862968), and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 943606)
The HDAC4 gene is associated with autosomal dominant brachydactyly-intellectual disabilities syndrome, also known as 2q37 deletion syndrome (MedGen UID: 419169) and autosomal dominant neurodevelopmental disorder with central hypotonia and dysmorphic facies (MedGen UID: 991171).
The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750).
The HEPACAM gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC2A) (MedGen UID: 462705), and autosomal dominant megalencephalic leukoencephalopathy with subcortical cysts 2B (MLC2B) (MedGen UID: 462706).
The HERC1 gene is associated with an autosomal recessive neurodevelopmental syndrome (MedGen UID: 934733).
The HES7 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 462292).
The HESX1 gene is associated with autosomal recessive and autosomal dominant septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).
The HEXA gene is associated with autosomal recessive Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency (MedGen UID: 11713).
The HEXB gene is associated with autosomal recessive Sandhoff disease (MedGen UID: 11313).
The HGD gene is associated with autosomal recessive alkaptonuria (MedGen UID: 1413).
The HGSNAT gene is associated with autosomal recessive mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C) (MedGen UID: 39477) and retinitis pigmentosa (RP) (MedGen UID: 907690).
The HIBCH gene is associated with autosomal recessive 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency (MedGen UID: 83349).
The HIKESHI gene is associated with autosomal recessive hypomyelinating leukodystrophy-13 (HLD13) (MedGen UID: 896545).
The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693), autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200), and an autosomal dominant neurodevelopmental syndrome (MedGen UID: 1684774). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).
The HLCS gene is associated with autosomal recessive holocarboxylase synthetase deficiency (MedGen UID: 120653).
The HMBS gene is associated with autosomal dominant acute intermittent porphyria (AIP) (MedGen UID: 56452) and autosomal recessive HMBS-related leukoencephalopathy. Biochemical testing for urinary aminolevulinic acid (ALA) and/or porphobilinogen (PBG) levels should be considered in individuals with clinical suspicion of AIP (PMID: 15767622, 26366103).
The HMGCL gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl (3HMG)-CoA lyase deficiency (MedGen UID: 78692 ).
The HMGCS2 gene is associated with autosomal recessive 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase deficiency (MedGen UID: 414399).
The HNF1A gene is associated with autosomal dominant maturity-onset diabetes of the young 3 (MODY3) (MedGen UID: 324942). Additionally, the HNF1A gene has preliminary evidence supporting a correlation with autosomal dominant renal tubular proteinuria (PMID: 27083284).
The HNF1B gene is associated with autosomal dominant renal cysts and diabetes syndrome (MedGen UID: 755090).
The HNF4A gene is associated with autosomal dominant familial hyperinsulinism (MedGen UID: 854723) and maturity-onset diabetes of the young (MODY) (MedGen UID: 377589).
The HNRNPU gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1392637).
The HOGA1 gene is associated with autosomal recessive primary hyperoxaluria type 3 (PH3) (MedGen UID: 462228).
The HOXA13 gene is associated with autosomal dominant hand-foot genital syndrome (MedGen UID: 331103) and Guttmacher syndrome (MedGen UID: 401304).
The HOXD13 gene is associated with autosomal dominant synpolydactyly (MedGen UID: 437845).
The HPCA gene is associated with autosomal recessive dystonia 2 (DYT2) (MedGen UID: 346511).
The HPD gene is associated with autosomal recessive tyrosinemia type III (MedGen UID: 78694). There is also preliminary evidence supporting a correlation with autosomal dominant hawkinsinuria (PMID: 11073718).
The HPGD gene is associated with autosomal recessive primary hypertrophic osteoarthropathy (MedGen UID: 1641972). Additionally, the HPGD gene has preliminary evidence supporting a correlation with isolated congenital digital clubbing (PMID: 18805827).
The HPRT1 gene is associated with X-linked HPRT deficiency which includes a spectrum of Lesch Nyhan syndrome (MedGen UID: 9721) to isolated hyperuricemia with gout (MedGen UID: 82770).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).
The HSD17B10 gene is associated with X-linked dominant 2-methyl-3-hydroxybutyric aciduria (MedGen UID: 336957).
The HSD17B4 gene is associated with autosomal recessive D-bifunctional protein (DBP) deficiency (MedGen UID: 137982), and autosomal recessive Perrault syndrome (MedGen UID: 1640257).
The HSD3B7 gene is associated with autosomal recessive congenital bile acid synthesis defect type 1 (MedGen UID: 335883).
The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).
The HSPG2 gene is associated with autosomal recessive Schwartz-Jampel syndrome type 1 (SJS1) (MedGen UID: 19892) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH) (MedGen UID: 98144).
The HTRA1 gene is associated with autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2) (MedGenUID: 895965) and autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MedGen UID: 325051).
The HTRA2 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 934617).
The HYAL1 gene is associated with autosomal recessive mucopolysaccharidosis type IX (MPS IX) (MedGen UID: 226942).
The IARS gene is associated with an autosomal recessive growth restriction, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) (MedGen UID: 934687).
The IARS2 gene is associated with autosomal recessive cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia (CAGSSS) (MedGen UID: 808053). Additionally, the IARS2 gene has preliminary evidence supporting a correlation with autosomal recessive isolated pediatric cataract (PMID: 29914532).
The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3 (MMDS3) (MedGen UID: 815495). Additionally, the IBA57 gene has preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (MedGen UID: 908839).
The ICK gene (also known as CILK1) is associated with autosomal recessive endocrine-cerebro-osteodysplasia (MedGen UID: 390740).
The IDH2 gene is associated with autosomal dominant D-2-hydroxyglutaric aciduria type 2 (MedGen UID: 462259).
The IDH3B gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 382614). Additionally, the IDH3B gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 28991257), and autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 28720665).
The IDS gene is associated with X-linked recessive mucopolysaccharidosis type II (MPS II, also known as Hunter syndrome) (MedGen UID: 7734). Additionally, the IDS gene has preliminary evidence supporting a correlation with tetralogy of Fallot (PMID: 22912587).
The IDUA gene is associated with autosomal recessive mucopolysaccharidosis type I (MPS I) (MedGen UID: 39698, 88566, 6453).
The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).
The IFIH1 gene is associated with autosomal dominant Aicardi-Goutieres syndrome (AGS) (MedGen UID: 854829) and Singleton-Merton syndrome (MedGen UID: 899946). Additionally, the IFIH1 gene has preliminary evidence supporting a correlation with autosomal recessive very early onset inflammatory bowel disease (VEO-IBD) (PMID: 34185153).
The IFITM5 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 419332).
The IFT122 gene is associated with autosomal recessive cranioectodermal dysplasia 1 (CED1) (MedGen UID: 96586).
The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455), and retinitis pigmentosa (MedGen UID: 1619674).
The IFT172 gene is associated with autosomal recessive Bardet-Biedl syndrome (PMID: 26763875), short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 816505), and non-syndromic retinitis pigmentosa (PMID: 25168386). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 24140113).
The IFT27 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 855173).
The IFT43 gene is associated with autosomal recessive cranioectodermal dysplasia (MedGen UID: 481437). Additionally, the IFT43 gene has preliminary evidence supporting a correlation with autosomal recessive retinal degeneration (PMID: 28973684).
The IFT52 gene is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (PMID: 26880018, 27466190).
The IFT57 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive orofaciodigital syndrome (MedGen UID: 1633851).
The IFT74 gene is associated with autosomal recessive Joubert syndrome (PMID: 33531668) and autosomal recessive asphyxiating thoracic dystrophy (ATD) (PMID: 33875766, 36865301). Additionally, the IFT74 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 934674), autosomal dominant amyotrophic lateral sclerosis (ALS) (PMID: 17166276), and autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 33770252).
The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).
The IFT81 gene is associated with a spectrum of autosomal recessive ciliopathies including short-rib thoracic dystrophy (SRTD) (MedGen UID: 1635837) and nephronophthisis with polydactyly (PMID: 26275418). Additionally, the IFT81 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 28460050).
The IGF1 gene is associated with autosomal recessive insulin-like growth factor I (IGF1) deficiency (MedGen UID: 373337). Additionally, the IGF1 gene has preliminary evidence supporting a correlation with autosomal dominant short stature with reduced head circumference (PMID: 20668042, 15769976).
The IGF1R gene is associated with autosomal dominant and autosomal recessive growth delay due to insulin-like growth factor I resistance (MedGen UID: 338622). Additionally, the IGF1R gene has preliminary evidence supporting a correlation with autosomal dominant craniosynostosis (PMID: 21204214, 29168297).
The IGF2 gene is associated with autosomal dominant Russell-Silver syndrome (MedGen UID: 104492). Parent-of-origin inheritance impacts the manifestation of disease in IGF2.
The IHH gene is associated with autosomal dominant brachydactyly type A1 (BDA1) (MedGen UID: 354673) and autosomal recessive acrocapitofemoral dysplasia (ACFD) (MedGen UID: 334681).
The IL11RA gene is associated with autosomal recessive craniosynostosis and dental anomalies (MedGen UID: 481703).
The IMPAD1 gene is associated with autosomal recessive chondrodysplasia with joint dislocations, GPAPP type (MedGen UID: 481387).
The IMPDH1 gene is associated with autosomal dominant and recessive retinitis pigmentosa (RP) (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis (LCA) (MedGen UID: 326698).
The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502) and retinitis pigmentosa (PMID: 29555955, 28559085, 29186038).
The INPPL1 gene is associated with autosomal recessive opsismodysplasia (OPSMD) (MedGen UID: 140927).
The INS gene is associated with autosomal dominant maturity-onset diabetes of the young type 10 (MODY10) (MedGen UID: 461967), permanent neonatal diabetes mellitus (PNDM) (MedGen UID: 371484) and autosomal recessive PNDM (MedGen UID: 371484). Additionally, the INS gene has preliminary evidence supporting a correlation with autosomal dominant hyperproinsulinemia (MedGen UID: 137967).
The INSR gene is associated with autosomal dominant familial hyperinsulinism (MedGen UID: 355335), autosomal recessive Donohue syndrome (also known as Lephrechaunism) (MedGen UID: 82708) and Rabson-Mendenhall syndrome (MedGen UID: 78783).
The INTU gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive oral-facial-digital syndrome (PMID: 29451301) and a spectrum of conditions affecting the skeletal system (PMID: 27158779, 29068549).
The INVS gene is associated with autosomal recessive infantile nephronophthisis (MedGen UID: 355574).
The IQSEC2 gene is associated with X-linked intellectual disability (MedGen UID: 444070).
The IREB2 gene is associated with autosomal recessive early onset neurodegeneration with choreoathetoid movements and microcytic anemia (MedGen UID: 941852).
The ISCA1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome-5 (MMDS5) (MedGen UID: 1623132).
The ISCA2 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome (MMDS) (MedGen UID: 833907).
The ISCU gene is associated with autosomal recessive hereditary myopathy with lactic acidosis (HML) (MedGen UID: 342573).
The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532). The ISPD gene is also known as the CRPPA gene.
The ITCH gene is associated with autosomal recessive ITCH deficiency (MedGen UID: 461999).
The ITM2B gene is associated with autosomal dominant cerebral amyloid angiopathy (MedGen UID: 396208, 358054). Additionally, the ITM2B gene has preliminary evidence supporting a correlation with autosomal dominant retinal dystrophy (MedGen UID: 863583).
The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 452450).
The ITPR1 gene is associated with autosomal dominant spinocerebellar ataxia type 15 (SCA15) and spinocerebellar ataxia type 29 (SCA29) (MedGen UID: 338301, 350085). The ITPR1 gene is also associated with autosomal dominant and recessive Gillespie syndrome (GLSP) (MedGen UID: 96563).
The IVD gene is associated with autosomal recessive isovaleric acidemia (MedGen UID: 82822).
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434), tetralogy of Fallot (MedGen UID: 21498), and Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 32065591). Additionally, the JAG1 gene has preliminary evidence supporting a correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 31273345).
The JAGN1 gene is associated with autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (MedGen UID: 863391).
The JAM3 gene is associated with autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) (MedGen UID: 462350).
The KANK1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy (MedGen UID: 442880) and intellectual disability with or without steroid resistant nephrotic syndrome (PMID: 26350204; 25961457).
The KARS gene is associated with autosomal recessive deafness (MedGen UID: 462701) and autosomal recessive syndromic deafness with mitochondrial features (PMID: 29615062). Additionally, the KARS gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (CMT) (PMID: 20920668).
The KAT6A gene is associated with an autosomal dominant intellectual disabilities syndrome (MedGen UID: 903767).
The KAT6B gene is associated with autosomal dominant genitopatellar syndrome (GPS) (MedGen UID: 381208) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (MedGen UID: 350209).
The KATNB1 gene is associated with autosomal recessive cortical malformations and microcephaly (MedGen UID: 863962).
The KCNA1 gene is associated with autosomal dominant episodic ataxia type 1 (EA1) (MedGen UID: 318554) and autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 10355668, 11026449, 30055040).
The KCNA2 gene is associated with autosomal dominant and recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 909501; PMID: 27457812) and autosomal dominant hereditary spastic paraplegia and ataxia (PMID: 27543892).
The KCNC3 gene is associated with autosomal dominant spinocerebellar ataxia 13 (SCA13) (MedGen UID: 344297).
The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).
The KCNJ11 gene is associated with autosomal recessive familial hyperinsulinism (MedGen UID: 419505), autosomal dominant familial hyperinsulinism (PMID: 18596924, 9259578, 21185999) and autosomal dominant KCNJ11-related early onset diabetes (MedGen UID: 371484). Additionally, the KCNJ11 gene has preliminary evidence supporting a correlation with type 2 diabetes mellitus (PMID: 9867219, 11318841, 12540637, 22082043, 15784703). Parent-of-origin inheritance may impact the risk for certain KCNJ11-related conditions.
The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586) and short QT syndrome (SQTS) (MedGen UID: 400662).
The KCNJ6 gene is associated with autosomal dominant Keppen-Lubinsky syndrome (MedGen UID: 481430).
The KCNMA1 gene is associated with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (GEPD) (MedGen UID: 332144) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29545233, 27567911).
The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462336).
The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 767109).
The KCTD1 gene is associated with autosomal dominant scalp-ear-nipple (SEN) syndrome (MedGen UID: 357183).
The KCTD17 gene is associated with autosomal dominant myoclonic dystonia 26 (DYT26) (MedGen UID: 904244).
The KCTD7 gene is associated with autosomal recessive progressive myoclonic epilepsy with or without intracellular inclusions (EPM3), also known as neuronal ceroid lipofuscinosis type 14 (CLN14) (MedGen UID: 388595).
The KDM1A gene is associated with an autosomal dominant neurodevelopmental condition (MedGen UID: 895943).
The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139).
The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 477126).
The KIAA0556 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900415).
The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) (MedGen UID: 901479).
The KIAA0753 gene is associated with a spectrum of autosomal recessive skeletal ciliopathies (PMID: 29138412).
The KIAA1161 gene (also known as MYORG) is associated with autosomal recessive primary basal ganglia calcification 7 (BGC7) (MedGen UID: 941234).
The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883). The KIDINS220 gene is also associated with an autosomal recessive congenital contracture syndrome (PMID: 28934391).
The KIF12 gene is associated with autosomal recessive cholestasis with high gamma-glutamyltransferase (PMID: 30976738). Additionally, the KIF12 gene has preliminary evidence supporting a correlation with congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 26352300).
The KIF1A gene is associated with a spectrum of disorders including autosomal dominant and recessive hereditary spastic paraplegia 30 (SPG30) (MedGen UID: 1710020), autosomal dominant complicated spastic paraplegia and intellectual disability 9 (ID9) (MedGen UID: 1714250), and autosomal recessive hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798).
The KIF1C gene is associated with autosomal recessive spastic ataxia type 2 (SPAX2) (MedGen UID: 370750).
The KIF22 gene is associated with autosomal dominant spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) (MedGen UID: 350960).
The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003), Charcot-Marie-Tooth disease type 2 (CMT2) (MedGen UID: 1633598), amyotrophic lateral sclerosis 25 (ALS25) (MedGen UID: 1633917), and intractable neonatal myoclonus (NEIMY) (MedGen UID: 934625).
The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome (MedGen UID: 162915).
The KL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive tumoral calcinosis (PMID: 17710231) and autosomal dominant differences in sex development (PMID: 28446957).
The KLF11 gene is associated with autosomal dominant maturity onset diabetes of the young (MODY) (MedGen UID: 87433).
The KLHL7 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 442864), autosomal recessive PERCHING syndrome (MedGen UID: 934709) and autosomal recessive Bohring-Opitz-like syndrome (PMID: 29074562, 31953236).
The KMT2A gene is associated with autosomal dominant Wiedemann-Steiner syndrome (WDSTS) (MedGen UID: 340266) (PMID: 28120103, 31337854, 35328068). There is preliminary evidence supporting a correlation with autosomal dominant Cornelia de Lange syndrome, due to the overlap in clinical presentation to WDSTS (PMID: 25574841, 31157197). In addition, there is preliminary evidence supporting a correlation with autosomal dominant lymphoma (PMID: 23457195) and leukemia (PMID: 31102422).
The KMT2B gene is associated with autosomal dominant childhood-onset dystonia (DYT28) (MedGen UID: 934600). Additionally, the KMT2B gene has preliminary evidence supporting a correlation with intellectual disability (PMID: 25405613).
The KMT2C gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 162390). Additionally, the KMT2C gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 29555671).
The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 893727) and a multiple malformations disorder (PMID: 31949313). Additionally, the KMT2D gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 57501) and with autosomal dominant holoprosencephaly (PMID: 31282990).
The KMT2E gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 1677602).
The KSR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with non-syndromic obesity (PMID:24209692).
The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 468441), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).
The L2HGDH gene is associated with autosomal recessive L-2-hydroxyglutaric aciduria (L2HGA) (MedGen UID: 341029).
The LAGE3 gene is associated with X-linked recessive Galloway-Mowat syndrome (MedGen UID: 1625619).
The LAMA1 gene is associated with autosomal recessive Poretti-Boltshauser syndrome (PTBHS) (MedGen UID: 863258). This condition is also known as cerebellar dysplasia with cysts.
The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).
The LAMB1 gene is associated with autosomal recessive cortical malformations (MedGen UID: 767571).
The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).
The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).
The LARP7 gene is associated with autosomal recessive Alazami syndrome (MedGen UID: 767353).
The LARS gene is associated with autosomal recessive infantile liver failure syndrome type 1 (ILFS1) (MedGen UID: 815852).
The LARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 815435) and hydrops, lactic acidosis, and sideroblastic anemia (HLASA) (MedGen UID: 934728).
The LBR gene is associated with autosomal dominant Pelger-Huet anomaly (MedGen UID: 10617), and autosomal recessive Greenberg dysplasia (MedGen UID: 418969) and Pelger-Huet anomaly with mild skeletal anomalies (MedGen UID: 1648288).
The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688).
The LEMD3 gene is associated with autosomal dominant Buschke-Ollendorff syndrome (BOS) (MedGen UID: 120545) and osteopoikilosis (MedGen UID: 120545).
The LEP gene is associated with autosomal recessive leptin dysfunction (MedGen: 767138).
The LEPR gene is associated with autosomal recessive leptin receptor deficiency (MedGen UID: 767139).
The LETM1 gene is associated with autosomal recessive mitochondrial encephalomyopathy (PMID: 36055214).
The LFNG gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 377871).
The LHX3 gene is associated with autosomal recessive combined pituitary hormone deficiency (CPHD) (MedGen UID: 341749).
The LIAS gene is associated with autosomal recessive hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) (MedGen UID: 482517).
The LIFR gene is associated with autosomal recessive Stuve-Wiedemann syndrome (SWS) (MedGen UID: 167109). Additionally, the LIFR gene has preliminary evidence supporting a correlation with autosomal dominant congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 28334964).
The LIG4 gene is associated with autosomal recessive LIG4 syndrome (MedGen UID: 339855).
The LIPA gene is associated with autosomal recessive lysosomal acid lipase (LAL) deficiency (MedGen UID: 53088).
The LIPT1 gene is associated with autosomal recessive lipoyltransferase 1 deficiency (MedGen UID: 904073).
The LIPT2 gene is associated with autosomal recessive neonatal encephalopathy with lactic acidosis and brain anomalies (NELABA) (MedGen UID: 1624694).
The LMBR1 gene, also known as ZRS, is associated with autosomal recessive acheiropodia (MedGen UID: 120547) and autosomal dominant polydactyly (MedGen UID: 357423).
The LMBRD1 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria, due to cobalamin F deficiency (MedGen UID: 336373).
The LMNA gene is associated with a spectrum of distinct and overlapping conditions collectively termed the laminopathies. Laminopathies which primarily affect the striated muscles include autosomal dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2), sometimes referred to as limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 98048), congenital muscular dystrophy (CMD) (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500), along with autosomal recessive Emery-Dreifuss muscular dystrophy type 3 (EDMD3) (MedGen UID: 413212). Laminopathies which primarily affect the peripheral nervous system include autosomal dominant (PMID: 14985400) and recessive Charcot-Marie-Tooth disease (MedGen UID: 343064). Syndromic laminopathies affecting multiple systems include autosomal dominant and recessive lipodystrophy (MedGen UID: 354526, 1684630), Hutchinson-Gilford progeria syndrome (HGPS) (MedGen UID: 46123), and heart-hand syndrome, Slovenian type (MedGen UID: 341859). Other conditions have also been reported (OMIM: 150330).
The LMNB1 gene is associated with autosomal dominant syndromic microcephaly (PMID: 32910914) and duplication of the entire LMNB1 gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD) (MedGen UID: 356995).
The LMX1B gene is associated with autosomal dominant nail-patella syndrome (NPS) (MedGen UID: 10257) and focal segmental glomerulosclerosis (FSGS)(PMID: 23687361, 26560070).
The LONP1 gene is associated with autosomal dominant congenital diaphragmatic hernia (PMID: 34547244) and autosomal recessive cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome (MedGen UID: 333031). Additionally, the LONP1 gene has preliminary evidence supporting a correlation with autosomal dominant mitochondrial encephalopathy (PMID: 31923470).
The LOXL3 gene is associated with autosomal recessive Stickler syndrome (PMID: 25663169). Additionally, the LOXL3 gene has preliminary evidence supporting a correlation with early-onset high myopia (PMID: 26957899).
The LPIN1 gene is associated with autosomal recessive acute recurrent myoglobinuria (MedGen UID: 340308). There is preliminary evidence suggesting heterozygous carriers may have mild muscular symptoms (PMID: 22481384, 18817903).
The LRP2 gene is associated with autosomal recessive Donnai-Barrow syndrome (DBS) (MedGen UID: 347406).
The LRP4 gene is associated with autosomal recessive Cenani-Lenz syndactyly syndrome (CLSS) (MedGen UID: 395226) and sclerosteosis 2 (SOST2) (MedGen UID: 482032). Additionally, the LRP4 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 17 (CMS17) (MedGen UID: 895078).
The LRP5 gene is associated with autosomal dominant osteopetrosis (MedGen UID: 335932), autosomal dominant polycystic liver disease (MedGen UID: 165781), autosomal recessive osteoporosis with pseudoglioma (OPPG) (MedGen UID: 98480), and autosomal dominant and recessive exudative vitreoretinopathy (FEVR) (MedGen UID: 356171).
The LRPPRC gene is associated with autosomal recessive mitochondrial complex IV deficiency, also referred to as French Canadian type Leigh syndrome (LSFC) (MedGen UID: 387801).
The LRRK1 gene is associated with autosomal recessive osteosclerotic metaphyseal dysplasia (PMID: 27829680).
The LRRK2 gene is associated with autosomal dominant Parkinson disease 8 (PARK8) (MedGen UID: 339628). Additionally, the LRRK2 gene has preliminary evidence supporting a correlation with autosomal dominant frontotemporal dementia (PMID: 17914064).
The LSR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with neonatal cholestasis, intellectual disability and short stature (PMID: 30250217).
The LTBP2 gene is associated with autosomal recessive primary congenital glaucoma (PCG) (MedGen UID: 416524), and microspherophakia (MedGen UID: 761238). Additionally, the LTBP2 gene has preliminary evidence supporting a correlation with autosomal recessive Weill-Marchesani syndrome (WMS) type 3 (MedGen UID: 766699), autosomal recessive Marfan-like syndrome (PMID: 22539340), and autosomal recessive alveolar capillary dysplasia without misalignment of pulmonary veins (PMID: 33766794).
The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1615724) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659). There is preliminary evidence for supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (TAAD) (PMID: 29625025).
The LYRM4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation (OXPHOS) deficiency (MedGen UID: 816385) and autosomal dominant gyral pattern anomaly and speech and language disorder (PMID: 23069351).
The LYRM7 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) (MedGen UID: 862877).
The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).
The LZTFL1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 811538).
The MAFB gene is associated with autosomal dominant multicentric carpotarsal osteolysis syndrome (MCTO) (MedGen UID: 436237) and autosomal dominant Duane retraction syndrome with or without deafness (DURS) (MedGen UID: 891561).
The MAG gene is associated with autosomal recessive spastic paraplegia 75 (SPG75) (MedGen UID: 896387).
The MAGEL2 gene is associated with autosomal dominant Schaaf-Yang syndrome (MedGen UID: 816207).
The MAGT1 gene is associated with X-linked recessive immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) (MedGen UID: 477076). Additionally, the MAGT1 gene has preliminary evidence supporting a correlation with X-linked recessive congenital disorder of glycosylation type Icc (MedGen UID: 1684742).
The MAN1B1 gene is associated with the autosomal recessive MAN1B1-congenital disorder of glycosylation (MAN1B1-CDG) (MedGen UID: 830900).
The MAN2B1 gene is associated with autosomal recessive alpha-mannosidosis (MedGen UID: 7467).
The MANBA gene is associated with autosomal recessive beta-mannosidosis (MedGen UID: 888408).
The MAOA gene is associated X-linked recessive Brunner syndrome (MedGen UID: 208683).
The MAP2K1 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815336).
The MAP3K20 gene is associated with autosomal recessive centronuclear myopathy 6 with fiber-type disproportion (CNM6) (MedGen UID: 1627492). Additionally, the MAP3K20 gene has preliminary evidence supporting a correlation with autosomal recessive split-foot malformation syndrome (MedGen UID: 898233).
The MAP3K7 gene is associated with autosomal dominant cardiospondylocarpofacial syndrome (CSCFS) (MedGen UID: 444060) and frontometaphyseal dysplasia (FMD) (MedGen UID: 934664).
The MAPT gene is associated with a spectrum of related autosomal dominant neurodegenerative conditions including frontotemporal dementia (FTD) (MedGen UID: 83266), Pick disease (MedGen UID: 116020), and progressive supranuclear palsy 1 (PSNP1) (MedGen UID: 1640811), collectively known as MAPT-related spectrum disorders (MedGen UID: 893467). Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 342410).
The MARS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 25 (MedGen UID: 896555) and spastic ataxia 3 (MedGen UID: 370715).
The MASP1 gene is associated with autosomal recessive 3MC syndrome 1 (3MC1) (MedGen UID: 167100).
The MAST1 gene is associated with autosomal dominant mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM, MedGen UID: 1648439, PMID: 30449657).
The MAT1A gene is associated with autosomal dominant and autosomal recessive hypermethioninemia (MedGen UID: 75700).
The MATN3 gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 335542). Additionally, the MATN3 gene has preliminary evidence supporting a correlation with autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) (PMID: 15121775).
The MATR3 gene is associated with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (MedGen UID: 813851), also known as distal myopathy 2 (MPD2).
The MBTPS1 gene is associated with autosomal recessive spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF) (MedGen UID: 1683128). Additionally, the MBTPS1 gene has preliminary evidence supporting a correlation with autosomal dominant elevated creatine kinase with myoedema (PMID: 31070020).
The MBTPS2 gene is associated with X-linked ichthyosis follicularis with atrichia and photophobia (MedGen UID: 327007) and osteogenesis imperfecta (MedGen UID: 1648353).
The MC3R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with severe childhood obesity (PMID: 17639020, 20539302).
The MC4R gene is associated with autosomal dominant and autosomal recessive obesity due to melanocortin 4 receptor deficiency (MedGen UID: 903905).
The MCCC1 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 468532).
The MCCC2 gene is associated with autosomal recessive 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency (MedGen UID: 347898).
The MCEE gene is associated with autosomal recessive methylmalonyl-CoA epimerase deficiency (MedGen UID: 344419).
The MCM5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Meier-Gorlin syndrome (MedGen UID: 1390366)
The MCOLN1 gene is associated with autosomal recessive mucolipidosis type IV (ML IV) (MedGen UID: 68663).
The MCPH1 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 344415).
The MDH2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1372686). Additionally, the MDH2 gene has preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 30008476), and autosomal dominant hyperglycemia (PMID 34718610).
The MECP2 gene is associated with X-linked Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked MECP2 duplication syndrome (MedGen: 337496), a contiguous gene duplication involving MECP2 as well as other neighboring genes within Xq28.
The MECR gene is associated with autosomal recessive childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG) (MedGen UID: 934601).
The MED12 gene is associated with X-linked dominant Hardikar syndrome (PMID: 33244166) and neurodevelopmental disorder (PMID: 33244165) and X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805), and syndromic intellectual disability (ID) (PMID: 30006928).
The MED17 gene is associated with autosomal recessive postnatal progressive microcephaly with seizures and brain atrophy (MedGen UID: 462271).
The MED25 gene is associated with autosomal recessive Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) (MedGen UID: 897292). Additionally, the MED25 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).
The MEF2C gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 462050). Additionally, the MEF2C gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 22498567, 29104469).
The MEGF8 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 767161).
The MEOX1 gene is associated with autosomal recessive Klippel-Feil syndrome (MedGen UID: 395201).
The MESDC2 gene (also known as MESD) is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 1684751).
The MESP2 gene is associated with autosomal recessive spondylocostal dysostosis (MedGen UID: 332481).
The MFF gene is associated with autosomal recessive encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF) (MedGen UID: 934693)
The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A (CMT2A) (MedGen UID: 1648317, 934692), also known as hereditary motor and sensory neuropathy with optic atrophy (HMSN6A) (MedGen UID: 140747).
The MFSD2A gene is associated with autosomal recessive primary microcephaly (MedGen UID: 895496).
The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808). In addition, the MFSD8 gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (ALS) (PMID: 33226711).
MGAT2 is associated with autosomal recessive MGAT2-congenital disorder of glycosylation (CDG-IIa) (MedGen UID 87610).
The MGME1 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome (MedGen UID: 767376).
The MGP gene is associated with autosomal recessive Keutel syndrome (KTLS) (MedGen UID: 383722).
The MICU1 gene is associated with autosomal recessive myopathy with extrapyramidal signs (MPXPS) (MedGen UID: 816615).
The MIPEP gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 31 (COXPD31) (MedGen UID: 934628).
The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and McKusick-Kaufman syndrome (MedGen UID: 184924).
The MKS1 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The MLC1 gene is associated with autosomal recessive megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1) (MedGen UID: 347006).
The MLYCD gene is associated with autosomal recessive malonyl-CoA decarboxylase deficiency (MedGen UID: 91001).
The MMAA gene is associated with autosomal recessive cobalamin A type methylmalonic aciduria (MMACblA) (MedGen UID: 344422).
The MMAB gene is associated with autosomal recessive cobalamin B type methylmalonic aciduria (MedGen UID: 344420).
The MMACHC gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).
The MMADHC gene is associated with autosomal recessive cobalamin D (cbl D) deficiency (MedGen UID: 341253)
The MMP13 gene is associated with autosomal dominant and recessive metaphyseal anadysplasia (MAD), including spondyloepimetaphyseal dysplasia, Missouri type (SEMD) (MedGen UID: 355563), and autosomal recessive metaphyseal dysplasia, Spahr type (MDST) (MedGen UID: 140928).
The MMP14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Winchester syndrome (MedGen UID: 98152).
The MMP2 gene is associated with autosomal recessive multicentric osteolysis, nodulosis, and arthropathy (MedGen UID: 342428).
The MMP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive metaphyseal anadysplasia (PMID: 19615667).
The MNX1 gene is associated with autosomal dominant Currarino syndrome (MedGen UID: 323460). Additionally, the MNX1 gene has preliminary evidence supporting a correlation with autosomal recessive neonatal diabetes mellitus (PMID: 24411943).
The MOCOS gene is associated with autosomal recessive xanthinuria (PMID: 17368066, 11302742, 25967871).
The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530).
The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760). Of note, the MOCS2 gene encodes two different proteins, MOCS2A and MOCS2B. Each protein is translated from alternate transcripts that have different open reading frames.
The MOCS3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with molybdenum cofactor deficiency (PMID: 30900395, 28544736).
MOGS is associated with autosomal recessive MOGS-congenital disorder of glycosylation (CDG-IIb) (MedGen UID 342954).
The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) (MedGen UID: 907298) and developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) (MedGen UID: 1765507)
The MPC1 gene is associated with autosomal recessive mitochondrial pyruvate carrier deficiency (MPYCD) (MedGen UID: 766521).
The MPDU1 gene is associated with autosomal recessive MPDU1-congenital disorder of glycosylation (CDG-If) (MedGen UID 322968).
The MPI gene is associated with autosomal recessive MPI-congenital disorder of glycosylation (CDG-Ib) (MedGen UID 400692).
The MPLKIP gene is associated with autosomal recessive non-photosensitive trichothiodystrophy (MedGen UID: 368381).
The MPV17 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome (MDS) (MedGen UID: 338045) and Charcot-Marie-Tooth disease type 2EE (CMT2EE) (MedGen UID: 1677426) .
The MPZ gene is associated with a spectrum of autosomal dominant peripheral neuropathies including Charcot-Marie-Tooth disease types 1B (CMT1B) (MedGen UID: 124377), 2I (CMT2I) (MedGen UID: 854756), 2J (CMT2J) (MedGen UID: 375107), dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318), and congenital hypomyelinating neuropathy 2 (CHN2) (MedGen UID: 1648446).
The MRAP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with childhood obesity (PMID: 23869016).
The MRE11 gene, formerly known as MRE11A, is associated with autosomal recessive ataxia-telangiectasia-like disorder (ATLD) (MedGen UID: 861227). There is also limited evidence suggesting the MRE11 gene is associated with autosomal dominant predisposition to breast and gynecologic cancers (PMID: 14684699, 24894818, 24549055, 25452441); however, this has not been replicated in large meta-analyses (PMID: 33471991).
The MRPL12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with poor growth and neurodegeneration (PMID: 23603806).
The MRPL3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant blepharophimosis, ptosis, and epicanthus inverses syndrome (BPES) with tetralogy of Fallot (PMID: 26418988) and autosomal recessive combined oxidative phosphorylation deficiency 9 (COXPD9) (MedGen UID: 482864).
The MRPL40 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis (ALS) (PMID: 31108397).
The MRPL44 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 16 (COXPD16) (MedGen UID: 815669).
The MRPS14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 38 (COXPD38) (MedGen UID: 941311).
The MRPS16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 2 (COXPD2) (MedGen UID: 400626).
The MRPS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 36 (COXPD36) (MedGen UID: 1644927).
The MRPS22 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 5 (COXPD5) (MedGen UID: 435972).
The MRPS23 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hepatic disease with combined respiratory chain complex deficiencies (PMID: 26741492).
The MRPS34 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 32 (COXPD32) (MedGen UID: 1617600).
The MRPS7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency 34 (COXPD34) (MedGen UID: 1631307).
The MSMO1 gene is associated with autosomal recessive microcephaly, congenital cataract, and psoriasiform dermatitis (MCCPD) (MedGen UID: 900653).
The MSTO1 gene is associated with autosomal recessive mitochondrial myopathy and ataxia (MedGen UID: 1620960). Additionally, the MSTO1 gene has preliminary evidence supporting a correlation with autosomal dominant mitochondrial myopathy and ataxia (MedGen UID: 1620960).
The MSX2 gene is associated with autosomal dominant parietal foramina (MedGen UID: 358250) and craniosynostosis (MedGen UID: 346753). Additionally, the MSX2 gene has preliminary evidence supporting a correlation with autosomal dominant parietal foramina with cleidocranial dysplasia (MedGen UID: 401479).
The MTFMT gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 15 (MedGen UID: 767096).
The MTHFD1 gene is associated with autosomal recessive methylenetetrahydrofolate dehydrogenase 1 deficiency (PMID: 25633902).
The MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).
The MTHFS gene is associated with autosomal recessive 5,10-methenyltetrahydrofolate synthetase deficiency (MedGen UID: 1684142).
The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 10 (COXPD10) (MedGen UID: 766443).
The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689).
The MTPAP gene is associated with autosomal recessive spastic ataxia 4 (SPAX4) (MedGen UID: 462275).
The MTR gene is associated with autosomal recessive cobalamin G (cblG) deficiency (MedGen UID: 344426).
The MTRR gene is associated with autosomal recessive homocystinuria due to cobalamin E deficiency (MedGen UID: 344640).
The MTTP gene is associated with autosomal recessive abetalipoproteinemia (MedGen UID: 1253).
The MUT gene is associated with autosomal recessive methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency (MedGen UID: 344424). This gene is also known as MMUT.
The MVK gene is associated with autosomal recessive mevalonate kinase deficiency which encompasses hyper-IgD syndrome (MedGen UID: 140768) and autosomal recessive mevalonic aciduria (MedGen UID: 368373). In addition, the MVK gene is associated with autosomal dominant porokeratosis (MedGen UID: 401352).
The MYCN gene is associated with autosomal dominant Feingold syndrome (MedGen UID: 1637716). Additionally, the MYCN gene has preliminary evidence supporting a correlation with an autosomal dominant megalencephaly syndrome (PMID: 30573562).
The MYH3 gene is associated with autosomal dominant distal arthrogryposis type 2A (DA2A) (MedGen UID: 120516), type 2B3 (DA2B3) (MedGen UID: 941429), and contractures, pterygia, and variable skeletal fusions syndrome 1A (CPSFS1A) (MedGen UID: 401232), and with autosomal recessive contractures, pterygia, and spondylocarpotarsal fusion syndrome (PMID: 29805041, 30008475).
The MYO18B gene is associated with autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism (KFS4) (MedGen UID: 894399).
The MYO5B gene is associated with autosomal recessive microvillus inclusion disease (MVID) (MedGen UID: 137954) and isolated cholestasis (MedGen UID: 1433019).
The NAA10 gene is associated with X-linked N-terminal acetyltransferase deficiency, also known as Ogden syndrome (MedGen UID: 477078). Additionally, the NAA10 gene has preliminary evidence supporting a correlation with X-linked Lenz microphthalmia syndrome (LMS) (MedGen UID: 162898; PMID: 24431331).
The NAA35 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with cerebral palsy (PMID: 25666757).
The NACC1 gene is associated with autosomal dominant infantile epilepsy, cataracts, and developmental delay (MedGen UID: 1377894).
The NADK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 2,4-dienoyl-CoA reductase deficiency (DECRD) (PMID: 29388319, 2332510).
The NAGA gene is associated with autosomal recessive alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency, also known as Schindler disease (MedGen UID: 373113, 324539, 324546).
The NAGLU gene is associated with autosomal recessive mucopolysaccharidosis type IIIB (MPS IIIB) (MedGen UID: 88601). There is also preliminary evidence supporting a correlation with autosomal dominant axonal Charcot-Marie-Tooth disease type 2V (CMT2V) (PMID: 25818867).
The NAGS gene is associated with autosomal recessive N-acetylglutamate synthase (NAGS) deficiency (MedGen UID: 120649).
The NANS gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia, Genevieve type (MedGen UID: 355314).
The NARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 24 (COXPD24) (MedGen UID: 864080). Additionally, the NARS2 gene has preliminary evidence supporting a correlation with autosomal recessive deafness (MedGen UID: 1679077).
The NAXD gene is associated with autosomal recessive progressive encephalopathy with brain edema and leukoencephalopathy-2 (PEBEL2) (MedGen UID: 941239).
The NAXE gene is associated with autosomal recessive progressive, early-onset encephalopathy with brain edema and/or leukoencephalopathy 1 (PEBEL1) (MedGen UID: 934642).
The NBAS gene is associated with autosomal recessive infantile liver failure (MedGen UID: 815981) and autosomal recessive short stature with optic nerve atrophy and Pelger-Huƫt anomaly (SOPH) syndrome (MedGen UID: 762020).
The NDP gene is associated with X-linked exudative vitreoretinopathy 2 (EVR2) (MedGen UID: 337030) and Norrie disease (ND) (MedGen UID: 75615). Other NDP-related retinopathies have been reported (MedGen UID: 75615).
The NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).
The NDUFA1 gene is associated with X-linked recessive mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) (MedGen UID: 1648278).
The NDUFA10 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) (MedGen UID: 1648347).
The NDUFA11 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 14 (MC1DN14) (MedGen UID: 1648440).
The NDUFA12 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 23 (MC1DN23) (MedGen UID: 374101).
The NDUFA13 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) (MedGen UID: 1648493).
The NDUFA2 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 13 (MC1DN13) (MedGen UID: 1648370).
The NDUFA4 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 23746447).
The NDUFA6 gene is associated with autosomal recessive mitochondrial complex 1 deficiency, nuclear type 33 (MC1DN33) (MedGen UID: 1648420).
The NDUFA9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648283).
The NDUFAF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex I deficiency (PMID: 21931170, 17557076).
The NDUFAF2 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) (MedGen UID: 374101).
The NDUFAF3 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 18 (MC1DN18) (MedGen UID: 1648321).
The NDUFAF4 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 15 (MC1DN15) (MedGen UID: 374101).
The NDUFAF5 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 16 (MC1DN16) (MedGen UID: 374101).
The NDUFAF6 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) (MedGen UID: 374101).
The NDUFAF7 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex I-related myopia (PMID: 28837730).
The NDUFB10 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Complex I deficiency (PMID: 28040730).
The NDUFB11 gene is associated with X-linked recessive myopathy, lactic acidosis and sideroblastic anemia (MLASA) (PMID: 27488349), X-linked dominant histiocytoid cardiomyopathy (PMID: 25921236), and X-linked dominant microphthalmia with linear skin defects syndrome (MLS) (MedGen UID: 906997). Additionally, there is preliminary evidence supporting a correlation with X-linked lethal infantile mitochondrial disorder (LIMD) (MedGen UID: 1648313).
The NDUFB3 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) (MedGen UID: 374101).
The NDUFB8 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive mitochondrial complex 1 deficiency (PMID: 29429471, 27290639).
The NDUFB9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive mitochondrial complex I deficiency (PMID: 20818383, 22200994).
The NDUFS1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 5 (MC1ND5) (MedGen UID: 374101).
The NDUFS2 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) (MedGen UID: 1648496). Additionally, the NDUFS2 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic optic neuropathy (PMID: 28031252).
The NDUFS3 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) (MedGen UID: 1648411).
The NDUFS4 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) (MedGen UID: 374101).
The NDUFS6 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) (MedGen UID: 374101).
The NDUFS7 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 3 (MC1DN3) (MedGen UID: 374101).
The NDUFS8 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) (MedGen UID: 1648466).
The NDUFV1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) (MedGen UID: 374101).
The NDUFV2 gene is associated with autosomal recessive mitochondrial complex I deficiency, type 7 (MC1DN7) (MedGen UID: 374101).
The NECTIN1 gene (also known as PVRL1) is associated with autosomal recessive cleft lip/palate-ectodermal dysplasia syndrome (MedGen UID: 444067).
The NECTIN4 gene is associated with autosomal recessive ectodermal dysplasia-syndactyly syndrome (MedGen UID: 462157).
The NEK1 gene is associated with autosomal dominant amyotrophic lateral sclerosis (MedGen UID: 1632999) and autosomal recessive short rib-polydactyly syndrome type 2 (SRP2), also known as Majewski syndrome (MedGen UID: 44252).
The NEK8 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462538).
The NEU1 gene is associated with autosomal recessive sialidosis, types I and II (MedGen UID: 120622, 120621).
The NEUROD1 gene is associated with autosomal dominant maturity onset diabetes of the young type 6 (MODY6) (MedGen UID: 344030) and autosomal recessive permanent neonatal diabetes with neurological abnormalities (PMID: 20573748). Additionally, the NEUROD1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 25477324).
The NEUROG3 gene is associated with autosomal recessive congenital malabsorptive diarrhea (MedGen UID: 372151).
The NFE2L2 gene is associated with autosomal dominant immunodeficiency, developmental delay, and hypohomocysteinemia due to NFE2L2 gain-of-function (MedGen UID: 1616061).
The NFIA gene is associated with autosomal dominant brain malformations and urinary tract defects (MedGen UID: 1392440).
The NFS1 gene is associated with autosomal recessive infantile mitochondrial complex II/III deficiency (MedGen UID: 1658790).
The NFU1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 1 (MMDS1) (MedGen UID: 343044).
The NGLY1 gene is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).
The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).
The NIN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 28726809) and microcephalic primordial dwarfism (PMID: 22933543, 23665482 )
The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).
The NIPBL gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 1645760).
The NKX2-1 gene is associated with autosomal dominant choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, also known as brain-thyroid-lung syndrome (MedGen UID: 369694).
The NKX2-2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with neonatal diabetes and developmental delays (PMID: 24411943, 23771172).
The NKX3-2 gene is associated with autosomal recessive spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) (MedGen UID: 412869).
The NKX6-2 gene is associated with autosomal recessive spastic ataxia with hypomyelinating leukodystrophy (SPAX8) (MedGen UID: 1382553).
The NLGN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with anxiety, autism, intellectual disability, hyperphagia and obesity (PMID: 27865048).
The NNT gene is associated with autosomal recessive glucocorticoid deficiency (GCCD) type 4 (MedGen UID: 766501).
The NOG gene is associated with autosomal dominant NOG-related symphalangism spectrum disorder (NOG-SSD) (PMID: 21538686) and autosomal dominant fibrodysplasia ossificans progressiva (FOP) (PMID: 19400542, 16080294).
The NOTCH1 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 863407), leukoencephalopathy with brain calcifications (PMID: 35947102), and isolated congenital heart defects with or without aortic valve disease (MedGen UID: 226776).
The NOTCH2 gene is associated with autosomal dominant Hajdu-Cheney syndrome (MedGen UID: 182961) and Alagille syndrome (ALGS) (MedGen UID: 341844).
The NOTCH3 gene is associated with autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL1) (MedGen UID: 1634330) and lateral meningocele syndrome (LMS) (MedGen UID: 342070). Additionally, the NOTCH3 gene has preliminary evidence supporting a correlation with autosomal dominant infantile myofibromatosis 2 (IMF2) (MedGen UID: 815414) and autosomal recessive Sneddon syndrome (PMID: 32980981, 25870235).
The NPC1 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 465922).
The NPC2 gene is associated with autosomal recessive Niemann-Pick disease type C (MedGen UID: 335942).
The NPHP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 343406). Additionally, the NPHP1 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27486776).
The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 811626).
The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).
The NPPC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant short stature (PMID: 28661490).
The NPR2 gene is associated with autosomal recessive acromesomelic dysplasia, Maroteaux type (AMDM) (MedGen UID: 355199), autosomal dominant epiphyseal chondrodysplasia, Miura type (ECDM) (MedGen UID: 799380), and autosomal dominant short stature (MedGen UID: 906874).
The NPR3 gene is associated with autosomal recessive tall stature with arachnodactyly (PMID: 30032985).
The NPY gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with non-syndromic obesity (PMID: 28489853).
The NR0B1 gene is associated with X-linked congenital adrenal hypoplasia (MedGen UID: 87442) and disorders of sex development (MedGen UID: 341190).
The NR0B2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant mild obesity among East Asian population (PMID: 11136233, 20233523).
The NR1H4 is associated with autosomal recessive progressive familial intrahepatic cholestasis (PFIC) (MedGen UID: 934714).
The NR2F1 gene is associated with autosomal dominant Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (MedGen UID: 816693).
The NR3C1 gene is associated with autosomal dominant glucocorticoid resistance (MedGen UID: 333960).
The NRXN1 gene is associated with autosomal recessive Pitt-Hopkins-like syndrome (MedGen UID: 482109) and variable autosomal dominant neurodevelopmental conditions (PMID: 23533028, 30031152). Additionally, the NRXN1 gene has preliminary evidence supporting a correlation with schizophrenia (PMID: 24126932, 21424692).
The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).
The NSDHL gene is associated with X-linked dominant CHILD syndrome (MedGen UID: 82697) and X-linked recessive CK syndrome (MedGen UID: 463131).
The NSMCE2 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 934614).
The NSUN3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined mitochondrial respiratory chain complex deficiency (PMID: 27356879).
The NT5C2 gene is associated with autosomal recessive hereditary spastic paraplegia 45 (SPG45) (MedGen UID: 854816).
The NT5C3A gene is associated with autosomal recessive hemolytic anemia due to pyrimidine-5ā²-nucleotidase type I (P5ā²NI) deficiency (MedGen UID:Ā 341470).
The NTRK1 gene is associated with autosomal recessive congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type 4 (HSAN4) (MedGen UID: 6915). Additionally, the NTRK1 gene has preliminary evidence supporting a correlation with autosomal recessive osteogenesis imperfecta (PMID: 28116328).
The NTRK2 gene is associated with autosomal dominant obesity, hyperphagia, and developmental delay (OBHD) (MedGen UID: 462653) and early infantile epileptic encephalopathy (EIEE) (MedGen UID: 1646861).
The NUBPL gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 21 (MC1DN21) (MedGen UID: 1648383).
The NUP62 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile bilateral striatonigral degeneration (MedGen UID: 167090).
The NUS1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29100083). Additionally, the NUS1 gene has preliminary evidence supporting a correlation with autosomal recessive NUS1-related congenital disorder of glycosylation (NUS1-CDG) (PMID: 25066056).
The NXN gene is associated with autosomal recessive Robinow syndrome (MedGen UID: 1676687).
The OAT gene is associated with autosomal recessive gyrate atrophy of choroid and retina (GACR) (MedGen UID: 109343).
The OBSL1 gene is associated with autosomal recessive 3-M syndrome (3M) (MedGen UID: 414168).
The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145) and Dent disease (MedGen UID: 931198).
The OFD1 gene is associated with X-linked dominant oral-facial-digital syndrome type 1 (OFD1) (MedGen UID: 307142), X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 440688), X-linked recessive primary ciliary dyskinesia (PCD) (PMID: 16783569), and X-linked recessive retinitis pigmentosa (RP) (MedGen UID: 238456).
The OGDH gene is associated with autosomal recessive alpha-ketoglutarate dehydrogenase deficiency (MedGen UID: 414553).
The OGT gene is associated with X-linked intellectual disability (MedGen UID: 1389156). Additionally, the OGT gene has preliminary evidence supporting a correlation with a neurodevelopmental seizure condition (PMID: 26795593).
The OPA1 gene is associated with autosomal dominant hereditary optic atrophy (OPA) (MedGen UID: 137902), optic atrophy plus syndrome (DOA+) (MedGen UID: 478179), autosomal dominant mitochondrial DNA deletion syndrome, and autosomal recessive Behr syndrome (MedGen UID: 66358). Additionally, the OPA1 gene has preliminary evidence supporting a correlation with autosomal recessive infantile mitochondrial encephalomyopathy hypertrophic cardiomyopathy with optic atrophy (MedGen UID: 903789).
The OPA3 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type III (formerly known as Costeff syndrome) (MedGen UID: 108273) and autosomal dominant optic atrophy and cataract (MedGen UID: 371657).
The OPLAH gene is associated with autosomal recessive 5-oxoprolinase deficiency (MedGen UID: 82814).
The OPTN gene is associated with autosomal dominant and recessive amyotrophic lateral sclerosis 12 (ALS12) (MedGen UID: 462042). The OPTN gene is also associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 87389).
The ORC1 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 1641240).
The ORC4 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462447).
The ORC6 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462463).
The OSGEP gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1627611).
The OSTM1 gene is associated with autosomal recessive OSTM1 deficiency associated osteopetrosis (MedGen UID: 409627).
The OTC gene is associated with X-linked ornithine transcarbamylase (OTC) deficiency (MedGen UID: 75692).
The OTX2 gene is associated with a spectrum of autosomal dominant OTX2-related disorders, including microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558), Leber congenital amaurosis (LCA) (PMID: 29343940, 27422788, 29588463), agnathia-otocephaly complex (PMID: 27442045, 22577225), pituitary hormone deficiency (MedGen UID: 462790), and oculo-auriculo-vertebral (OAV) spectrum (PMID: 36368868).
The OXCT1 gene is associated with autosomal recessive succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency (MedGen UID: 137979).
The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).
The P4HB gene is associated with autosomal dominant Cole-Carpenter syndrome (MedGen UID: 1374755).
The PACS1 gene is associated with autosomal dominant Schuurs-Hoeijmakers syndrome (MedGen UID: 767257).
The PAFAH1B1 gene, previously known as LIS1, is associated with autosomal dominant lissencephaly including Miller-Dieker syndrome, isolated lissencephaly sequence, and subcortical band heterotopia (MedGen UID: 98463).
The PAH gene is associated with autosomal recessive hyperphenylalaninemia (HPA), which includes the spectrum of phenylketonuria (PKU), non-PKU hyperphenylalaninemia (non-PKU HPA) and benign HPA (MedGen UID: 19244).
The PAK3 gene is associated with X-linked intellectual disability 30 (XLID30) (MedGen UID: 163235).
The PALM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive atypical cerebral palsy (PMID: 30542205).
The PAM16 gene is associated with autosomal recessive spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) (MedGen UID: 413221).
The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).
The PAPSS2 gene is associated with autosomal recessive brachyolmia (BCYM) (MedGen UID: 411234)
The PARK7 gene (previously known as DJ1) is associated with autosomal recessive Parkinson disease 7 (PARK7) (MedGen UID: 344049).
The PARS2 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 941850). Additionally, the PARS2 gene has preliminary evidence supporting a correlation with autosomal recessive Alpers syndrome (PMID: 25629079)
The PAX1 gene is associated with autosomal recessive otofaciocervical syndrome (MedGen UID: 811517). Additionally, the PAX1 gene has preliminary evidence supporting a correlation with autosomal dominant oculo-auricular-vertebral syndrome (PMID: 35879406).
The PAX4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with maturity-onset diabetes of the young, type 9 (MODY9) (MedGen UID: 87433).
The PC gene is associated with autosomal recessive pyruvate carboxylase (PC) deficiency (MedGen UID: 18801).
The PCBD1 gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to pterin-4 alpha-carbinolamine dehydratase deficiency (MedGen UID: 440773).
The PCCA gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).
The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).
The PCDH12 gene is associated with autosomal recessive diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) (MedGen UID: 1615973)
The PCDH19 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813). Males with somatic mosaicism have been reported to be affected with a similar phenotype to reported females (PMID: 28462982, 28669061, 26765483).
The PCGF2 gene is associated with autosomal dominant Turnpenny-Fry syndrome (MedGen UID: 941303).
The PCK1 gene is associated with autosomal recessive cytosolic phosphoenolpyruvate carboxykinase deficiency (PCKDC) (MedGen UID: 342359).
The PCK2 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive phosphoenolpyruvate carboxykinase deficiency (PMID: 24215330).
The PCNT gene is associated with autosomal recessive microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) (MedGen UID: 96587).
The PCSK1 gene is associated with autosomal recessive obesity due to prohormone convertase I deficiency (MedGen UID: 928547).
The PCYT1A gene is associated with autosomal recessive spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) (MedGen UID: 324684). Additionally, the PCYT1A gene has preliminary evidence supporting a correlation with autosomal recessive congenital lipodystrophy and fatty liver disease (PMID: 24889630).
The PDE10A gene is associated with autosomal dominant childhood onset chorea with bilateral striatal lesions (MedGen UID: 934758), and autosomal recessive infantile onset dyskinesia (MedGen UID: 934759).
The PDE2A gene is associated with autosomal recessive intellectual developmental disorder with paroxysmal dyskinesia or seizures (MedGen UID: 1727046).
The PDE3A gene is associated with autosomal dominant brachydactyly-arterial hypertension syndrome (MedGen UID: 349445).
The PDE4D gene is associated with autosomal dominant acrodysostosis (MedGen UID: 766164) and acroscyphodysplasia (PMID: 30006632).
The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).
The PDGFB gene is associated with autosomal dominant primary basal ganglia calcification type 5 (BGC5) (MedGen UID: 815975).
The PDGFRB gene is associated with autosomal dominant Kosaki overgrowth syndrome (KOGS) (MedGen UID: 851787), primary basal ganglia calcification 4 (BGC4) (MedGen UID: 767235), infantile myofibromatosis 1 (IMF1) (MedGen UID: 140933) and Penttinen-Aula syndrome (PENTT) (MedGen UID: 400936).
The PDHA1 gene is associated with X-linked pyruvate dehydrogenase E1-alpha (PDHE1Ī±) deficiency (MedGen UID: 326487).
The PDHB gene is associated with autosomal recessive pyruvate dehydrogenase complex (PDHC) deficiency (MedGen UID: 357977).
The PDHX gene is associated with autosomal recessive pyruvate dehydrogenase complex (PDHC) deficiency (MedGen UID: 343383).
The PDK3 gene is associated with X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) (MedGen UID: 813032).
The PDP1 gene is associated with autosomal recessive pyruvate dehydrogenase phosphatase deficiency (PDHPD) (MedGen UID: 332448).
The PDSS1 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766268).
The PDSS2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766272).
The PDX1 gene is associated with autosomal dominant maturity onset diabetes of the young (MODY) (MedGen UID: 318863), and autosomal recessive permanent neonatal diabetes mellitus (PNDM) (MedGen UID: 371484).
The PDYN gene is associated with autosomal dominant spinocerebellar ataxia 23 (SCA23) (MedGen UID: 339942). In addition, the PDYN gene has preliminary evidence supporting a correlation with autosomal dominant cardiac conduction disease (PMID: 30611784).
The PET100 gene is associated with autosomal recessive mitochondrial complex IV deficiency (PMID: 24462369, 25293719).
The PEX1 gene is associated with autosomal recessive Zellweger spectrum disorders (ZSD) (MedGen UID: 489910, 343498, 21958, 1647369).
The PEX10 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766861, MedGen UID: 766862).
The PEX11B gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766969), also referred to as peroxisome biogenesis disorder 14B.
The PEX12 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766843, 79470).
The PEX13 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766914, 766915).
The PEX14 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766918).
The PEX16 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766873, 766874).
The PEX19 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766916).
The PEX2 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766854, 762202).
The PEX26 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 761334, 766865).
The PEX3 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766913).
The PEX5 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 347830, MedGen UID: 129184) and rhizomelic chondrodysplasia punctata (RCDP) (PMID: 26220973).
The PEX6 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766850, 766851, 903520).
The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata (RCDP) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161).
The PFKM gene is associated with autosomal recessive glycogen storage disease type VII (GSD7) (MedGen UID: 5342).
The PFN1 gene is associated with autosomal dominant amyotrophic lateral sclerosis 18 (ALS18) (MedGen UID: 766633). Additionally, the PFN1 gene has preliminary evidence supporting a correlation with autosomal dominant Paget disease of bone (PMID: 32392277).
The PGAM2 gene is associated with autosomal recessive glycogen storage disease type X (GSD X) (MedGen UID: 120613).
The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 862780). Additionally, the PGAP1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).
The PGAP2 gene is associated with autosomal recessive PGAP2-congenital disorder of glycosylation (PGAP2-CDG)(MedGen UID: 481783).
The PGAP3 gene is associated with autosomal recessive PGAP-congenital disorder of glycosylation (MedGen UID: 816684).
The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166).
PGM1 is associated with autosomal recessive PGM1-congenital disorder of glycosylation (CDG-It) (MedGen UID 766970).
The PGM3 gene is associated with autosomal recessive PGM3-congenital disorder of glycosylation (CDG) (MedGen UID: 862808).
The PHAX gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant adult-onset leukodystrophy (ADLD) (PMID: 25701871, 30842973).
The PHEX gene is associated with X-linked hypophosphatemia (XLH) (MedGen UID: 196551).
The PHF6 gene is associated with X-linked Borjeson-Forssman-Lehmann syndrome (MedGen UID: 78557) and Coffin-Siris syndrome (PMID: 24092917, 25099957).
The PHGDH gene is associated with autosomal recessive phosphoglycerate dehydrogenase deficiency (MedGen UID: 400935), which includes Neu-Laxova syndrome (NLS) (MedGen UID: 833709). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant macular telangiectasia (PMID: 33758422)
The PHIP gene is associated with an autosomal dominant neurodevelopmental disorder including developmental delay, intellectual disability, dysmorphic facial features, and obesity (MedGen UID: 1641154). Additionally, the PHIP gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 27824329).
The PHKA1 gene is associated with X-linked recessive glycogen storage disease type IXd (GSD IXd) (MedGen UID: 335112).
The PHKA2 gene is associated with X-linked recessive glycogen storage disease type IXa (GSD IXa) (MedGen UID: 42261).
The PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD IXb) (MedGen UID: 337918).
The PHKG2 gene is associated with autosomal recessive glycogen storage disease, type IXc (GSD IXc) (MedGen UID: 442778).
The PHYH gene is associated with autosomal recessive Refsum disease (MedGen UID: 11161).
The PIGA gene is associated with X-linked PIGA-congenital disorder of glycosylation (MedGen UID: 477139).
The PIGB gene is associated with autosomal recessive early infantile epileptic encephalopathy 80 (MedGen UID: 945343).
The PIGC gene is associated with autosomal recessive glycosylphosphatidylinositol biosynthesis defect-16 (GPIBD16) (MedGen UID: 1628197).
The PIGG gene is associated with autosomal recessive PIGG-congenital disorder of glycosylation (PIGG-CDG) (PMID: 26996948, 28581210).
The PIGL gene is associated with autosomal recessive CHIME syndrome (MedGen UID: 341214).
The PIGM gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal recessive PIGM-congenital disorder of glycosylation (MedGen UID: 342819).
The PIGN gene is associated with autosomal recessive PIGN-congenital disorder of glycosylation (MedGen UID: 481405).
The PIGO gene is associated with autosomal recessive PIGO-congenital disorder of glycosylation (MedGen UID: 766551).
The PIGP gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1622363).
The PIGQ gene is associated with autosomal recessive PIGQ-congenital disorder of glycosylation (MedGen UID: 945249).
The PIGT gene is associated with autosomal recessive PIGT-congenital disorder of glycosylation (MedGen UID 815686). Additionally, the PIGT gene has preliminary evidence supporting a correlation with paroxysmal nocturnal hemoglobinuria (PMID: 23733340, 31430258, 31638602).
The PIGU gene is associated with autosomal recessive glycosylphosphatidylinositol biosynthesis defect 21 (MedGen UID: 945349).
The PIGV gene is associated with autosomal recessive hyperphosphatasia with intellectual disability syndrome (MedGen UID: 383800, 1647044), also referred to as Mabry syndrome.
The PIGW gene is associated with autosomal recessive glycosylphosphatidylinositol (GPI) biosynthesis defect 11, also known as hyperphosphatasia with intellectual disability syndrome 5 (MedGen UID: 863395).
The PIGY gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive PIGY-related glycosylphosphatidylinositol (GPI) biosynthesis disorder (MedGen UID: 906509).
The PIK3C2A gene is associated with autosomal recessive oculoskeletodental syndrome (MedGen UID: 941796).
The PIK3R2 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 861164).
The PINK1 gene is associated with autosomal recessive early-onset Parkinson disease 6 (PARK6) (MedGen UID: 342982). Additionally, the PINK1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease (PMID: 20461815).
The PISD gene is associated with an autosomal recessive skeletal dysplasia (PMID: 30488656, 30858161).
The PITRM1 gene is associated with autosomal recessive spinocerebellar ataxia (PMID: 29764912, 26697887).
The PITX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Liebenberg syndrome (MedGen UID: 396103), autosomal dominant congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly (MedGen UID: 891649) and autosomal dominant mandibular-Pelvic-Patellar syndrome (PMID: 32598510).
The PKD1L1 gene is associated with autosomal recessive laterality defects (MedGen UID: 934635).
The PKDCC gene is associated with an autosomal recessive rhizomelic limb shortening with dysmorphic features (Medgen UID: 1720321).
The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076).
The PLA2G6 gene is associated with a spectrum of autosomal recessive conditions including PLA2G6-associated neurodegeneration (PLAN) (MedGen UID: 831067), neuroaxonal dystrophy (NAD) (MedGen UID: 82852), and Parkinson disease 14 (PARK14) (MedGen UID: 414488).
The PLAA gene is associated with an autosomal recessive neurodevelopmental disorder (MedGen UID: 1380260).
The PLD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia 46 (SCA46) (MedGen UID: 1624251).
The PLEKHG2 gene is associated with autosomal recessive leukodystrophy and acquired microcephaly with or without dystonia (MedGen UID: 908888).
The PLK4 gene is associated with autosomal recessive microcephaly and short stature with or without ocular anomalies (PMID: 25320347, 25344692, 27650967).
The PLOD2 gene is associated with autosomal recessive Bruck syndrome (MedGen UID: 373129).
The PLP1 gene is associated with a spectrum of X-linked conditions including hereditary spastic paraplegia 2 (SPG2) (MedGen UID: 374177) and hypomyelinating leukodystrophy type 1 (HLD1), also known as Pelizaeus-Merzbacher disease (PMD) (MedGen UID: 61440).
The PLS3 gene is associated with X-linked osteoporosis (MedGen UID: 813042).
The PLXNA2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 28407358), Tetralogy of Fallot (PMID: 11688557, 22912587), and atypical cerebral palsy (PMID: 30542205).
The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).
The PMP22 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727), CMT type 1E (CMT1E) (MedGen UID: 501212), and hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291). Other PMP22-related disorders have also been reported (OMIM 601097).
The PMPCA gene is associated with autosomal recessive spinocerebellar ataxia 2 (SCAR2) (MedGen UID: 349134) and autosomal dominant optical atrophy (DOA) (MedGen UID: 35885985).
The PMPCB gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome (MedGen UID: 1643082).
The PNKD gene is associated with autosomal dominant paroxysmal nonkinesigenic dyskinesia 1 (PNKD1) (MedGen UID: 1631383). Additionally, the PNKD gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28894297).
The PNKP gene is associated with autosomal recessive ataxia with oculomotor apraxia 4 (AOA4) (MedGen UID: 902323), Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID:Ā 381352) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462017).
The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).
The PNPLA6 gene is associated with a spectrum of autosomal recessive neurological conditions, including hereditary spastic paraplegia 39 (SPG39) (MedGen UID: 383142), Boucher-Neuhauser syndrome (BNHS) (MedGen UID: 347798), Oliver-McFarlane syndrome (OMCS) (MedGen UID: 338532), and Lawrence-Moon syndrome (LNMS) (MedGen UID: 44078).
The PNPLA8 gene is associated with autosomal recessive mitochondrial myopathy with lactic acidosis (MedGen UID: 343245).
The PNPO gene is associated with autosomal recessive pyridoxal 5’-phosphate-dependent epilepsy (MedGen UID: 350498).
The PNPT1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 13 (COXPD13) (MedGen UID: 767043). Additionally, the PNPT1 gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (DFNB) (MedGen UID: 760477).
The POC1A gene is associated with autosomal recessive short stature, onychodysplasia, facial dysmorphism, hypotrichosis (SOFT) syndrome (MedGen UID: 762199).
The POFUT1 gene is associated with autosomal dominant Dowling-Degos disease 2 (DDD2) (MedGen UID: 815477).
The POGLUT1 gene is associated with autosomal dominant Dowling-Degos disease (MedGen UID: 816643) and autosomal recessive limb-girdle muscular dystrophy type R21 (LGMDR21) (MedGen UID: 934627).
The POLG gene is associated with a spectrum of related autosomal recessive conditions including Alpers-Huttenlocher syndrome (AHS) (MedGen UID: 60012), childhood myocerebrohepatopathy spectrum (MCHS) (PMID: 18546365, 15689359), myoclonic epilepsy myopathy sensory ataxia (MEMSA) (MedGen UID: 334510), progressive external ophthalmoplegia (arPEO) (MedGen UID: 897191) and ataxia neuropathy spectrum (ANS) (MedGen UID: 375302). In addition, the POLG gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (adPEO) (MedGen UID: 371919).
The POLG2 gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions 4 (PEOA4) (MedGen UID: 350480).
The POLR1A gene is associated with autosomal dominant acrofacial dysostosis (MedGen UID: 903483) and autosomal recessive leukodystrophy (PMID: 36917474).
The POLR1C gene is associated with autosomal recessive Treacher Collins syndrome (MedGen UID: 340868) and hypomyelinating leukodystrophy (MedGen UID: 897960).
The POLR3A gene is associated with autosomal recessive hypomyelinating leukodystrophy 7 (MedGen UID: 390993) and autosomal recessive Wiedemann-Rautenstrauch syndrome (MedGen UID: 140806).
The POLR3B gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1I (MedGen UID: 990913) and autosomal recessive hypomyelinating leukodystrophy 8 (HLD8), with or without oligodontia and/or hypogonadotropic hypogonadism (MedGen UID: 482274).
The POMC gene is associated with autosomal recessive proopiomelanocortin deficiency (MedGen UID: 341863).
The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671).
The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727) and type C8 (MDDGC8) (MedGen UID: 1648468).
The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 863621).
The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).
The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).
The POP1 gene is associated with autosomal recessive anauxetic dysplasia (MedGen UID: 1384439).
The POR gene is associated with autosomal recessive cytochrome P450 oxidoreductase deficiency (POR) deficiency (MedGen UID: 461449).
The PORCN gene is associated with X-linked focal dermal hypoplasia (MedGen UID: 42055). Additionally, the PORCN gene has preliminary evidence supporting a correlation with X-linked recessive anophthalmia and microphthalmia (MedGen UID: 468558).
The PPA2 gene is associated with autosomal recessive sudden cardiac failure (MedGen UID: 934631).
The PPARG gene is associated with autosomal dominant familial partial lipodystrophy type 3 (FPLD3) (MedGen UID: 328393). Additionally, the PPARG gene has preliminary evidence supporting a correlation with an increased risk for type 2 diabetes (PMID: 25157153).
The PPIB gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 376720).
The PPM1F gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with sclerosing cholangitis, short stature, hypothyroidism and abnormal tongue pigmentation (PMID: 30250217).
The PPM1K gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 767489) (PMID: 23086801).
The PPOX gene is associated with autosomal dominant variegate porphyria (VP) (MedGen UID: 58118). Biochemical testing for urinary aminolevulinic acid (ALA) and/or porphobilinogen (PBG) levels should be considered in individuals with clinical suspicion of VP (PMID: 15767622, 26366103).
The PPP1R15B gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with microcephaly, short stature, and impaired glucose metabolism 2 (MedGen UID: 906140).
The PPP2R1A gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 899880).
The PPP3CA gene is associated with autosomal dominant arthrogryposis, cleft palate, craniosynostosis, and intellectual disability (ACCID) (MedGen UID: 1648372) and early infantile or childhood epileptic encephalopathy (EICEE) (MedGen UID: 1626137).
The PPT1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).
The PRDX1 and MMACHC genes are associated with autosomal recessive epi-cobalamin C (epi-cblC) deficiency. Specific splice site variants in the PRDX1 gene are known to cause epigenetic silencing of the adjacent MMACHC gene. The combination of a pathogenic variant in PRDX1 and a pathogenic variant on the opposite MMACHC allele is consistent with autosomal recessive MMACHC-related methylmalonic acidemia with homocystinuria due to epi-cblC deficiency (MedGen UID: 341256).
The PREPL gene is associated with autosomal recessive congenital myasthenic syndrome 22 (CMS22) (MedGen UID: 1393545). Additionally, contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria syndrome (PMID: 16385448).
The PRF1 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 2 (FHL2) (MedGen UID: 400366). There is also preliminary evidence supporting a correlation with non-Hodgkin lymphoma (PMID: 25215106, 23734337, 24390453).
The PRKAR1A gene is associated with autosomal dominant Carney complex (CNC) (MedGen UID: 388559) and acrodysostosis (MedGen UID: 477858).
The PRKCSH gene is associated with autosomal dominant polycystic liver disease (PCLD) (MedGen UID: 56388).
The PRKDC gene is associated with autosomal recessive severe combined immunodeficiency due to DNA PKcs deficiency (MedGen UID: 863270).
The PRKN gene (formerly known as PARK2) is associated with autosomal recessive early-onset Parkinson disease 2 (PARK2) (MedGen UID: 401500).
The PRKRA gene is associated with autosomal recessive dystonia 16 (DYT16) (MedGen UID: 436979). Additionally, the PRKRA gene has preliminary evidence supporting a correlation with autosomal dominant dystonia (PMID: 18420150).
The PRMT7 gene is associated with autosomal recessive short stature, brachydactyly, intellectual developmental disability, and seizures (SBIDDS) (MedGen UID: 934656).
The PRNP gene is associated with a spectrum of autosomal dominant neurodegenerative disorders including Creutzfeldt-Jakob disease (CJD) (MedGen UID: 7179), Gerstmann-Straussler-Scheinker (GSS) syndrome (MedGen UID: 4886), and fatal familial insomnia (FFI) (MedGen UID: 104768), collectively known as genetic prion diseases.
The PRODH gene is associated with autosomal recessive hyperprolinemia type I (MedGen UID: 120645), a biochemical phenotype which may or may not result in a clinical condition. Please note that PRODH lies within the 22q11.2 region.
The PROP1 gene is associated with autosomal recessive combined pituitary hormone deficiency (MedGen UID: 209236).
The PLPBP (also known as PROSC) gene is associated with autosomal recessive pyridoxine-dependent epilepsy (PDE) (MedGen UID: 934599).
The PRPS1 gene is associated with a spectrum of X-linked conditions including Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254), Arts syndrome (MedGen UID: 163205), phosphoribosylpyrophosphate synthetase (PRS) superactivity (MedGen UID: 370358), and congenital sensorineural deafness type 1 (DFNX1) (MedGen UID: 336749).
The PRRT2 gene is associated with a spectrum of clinically overlapping autosomal dominant neurological conditions including episodic kinesigenic dyskinesia 1 (EKD1) (MedGen UID: 1636366), benign familial infantile seizures 2 (BFIS2) (MedGen UID: 381313), autosomal dominant familial hemiplegic migraine (FHM) (PMID: 34649875, 33126486) and familial infantile convulsions with paroxysmal choreoathetosis (ICCA) (MedGen UID: 356123).
The PRUNE1 gene is associated with an autosomal recessive neurodevelopmental condition with microcephaly, hypotonia, and variable brain anomalies (MedGen UID: 1380860).
The PSAP gene is associated with autosomal recessive combined saposin deficiency (PSAPD) (MedGen UID: 382151), metachromatic leukodystrophy due to saposin B deficiency (MedGen UID: 120624), and atypical Gaucher disease due to saposin C deficiency (PMID: 17919309). There is also preliminary evidence supporting a correlation with atypical Krabbe disease due to saposin A deficiency (PMID: 15773042).
The PSAT1 gene is associated with autosomal recessive phosphoserine aminotransferase (PSAT) deficiency (MedGen UID: 410026), which includes Neu-Laxova syndrome type 2 (MedGen UID: 863456).
The PSEN1 gene is associated with autosomal dominant Alzheimer disease type 3 (AD3) (MedGen UID: 334304). Additionally, the PSEN1 gene has preliminary evidence supporting a correlation with autosomal dominant familial acne inversa type 3 (ACNINV3) (MedGen UID: 462388), dilated cardiomyopathy (MedGen UID: 463620), and frontotemporal dementia (FTD) (MedGen UID: 83266, 116020).
The PSEN2 gene is associated with autosomal dominant Alzheimer disease type 4 (AD4) (MedGen UID: 376072).
The PSPH gene is associated with autosomal recessive phosphoserine phosphatase deficiency (PSPHD) (PMID: 25080166, 14673469).
The PTDSS1 gene is associated with autosomal dominant Lenz-Majewski hyperostosis syndrome (LMHD) (MedGen UID: 98483).
The PTEN gene is associated with autosomal dominant PTEN hamartoma tumor syndrome (PHTS), including the clinical subtypes of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and PTEN-related autism spectrum disorder (MedGen UID: 368366). Other PTEN-associated conditions have also been described (PMID: 11755638, 17392703, 27890237).
The PTF1A gene is associated with autosomal recessive pancreatic agenesis (MedGen UID: 863174) and pancreatic and cerebellar agenesis (MedGen UID: 332288).
The PTH1R gene is associated with autosomal recessive Blomstrand chondrodysplasia (BOCD) (MedGen UID: 395189), autosomal recessive Eiken syndrome (MedGen UID: 325097), autosomal dominant Jansen type metaphyseal chondrodysplasia (JMC) (MedGen UID: 120529) and autosomal dominant primary failure of tooth eruption (PFTE) (MedGen UID: 338882). Additionally, the PTH1R gene has preliminary evidence supporting correlations with autosomal dominant Ollier syndrome (PMID: 18559376) and autosomal recessive pseudohypoparathyroidism with neurological involvement (PMID: 27415614).
The PTHLH gene is associated with autosomal dominant brachydactyly type E (BDE) with and without short stature (MedGen UID: 461994).
The PTPN11 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 1638960) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694). In addition, PTPN11 is associated with autosomal dominant metachondromatosis (MedGen UID: 98377).
The PTPN23 gene is associated with autosomal recessive neurodevelopmental delay and structural brain abnormalities (MedGen UID: 965544).
The PTS gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (MedGen UID: 209234).
The PURA gene is associated with autosomal dominant PURA syndrome (MedGen UID: 1634675).
The PUS1 gene is associated with autosomal recessive myopathy, lactic acidosis, and sideroblastic anemia (MLASA) (MedGen UID: 1634824).
The PUS3 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 934712).
The PYCR1 gene is associated with autosomal recessive cutis laxa, type 2B (ARCL2B) (MedGen UID: 414526).
The PYCR2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-10 (HLD10) (MedGen UID: 904191).
The PYGL gene is associated with autosomal recessive glycogen storage disease type VI (GSD VI) (MedGen UID: 6643).
The PYGM gene is associated with autosomal recessive glycogen storage disease type V (GSD V), also known as McArdle disease (MedGen UID: 5341).
The QARS gene is associated with autosomal recessive progressive microcephaly with seizures and cerebral and cerebellar atrophy (MedGen UID: 862676).
The QDPR gene is associated with autosomal recessive tetrahydrobiopterin-deficient hyperphenylalaninemia due to quinoid dihydropteridine reductase deficiency (MedGen UID: 75682).
The QRSL1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 40 (COXPD40) (MedGen UID: 955948).
The RAB11B gene is associated with an autosomal dominant neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (MedGen UID: 1621102).
The RAB23 gene is associated with autosomal recessive Carpenter syndrome (MedGen UID: 1644017).
The RAB33B gene is associated with autosomal recessive Smith-McCort dysplasia (MedGen UID: 811489).
The RAB3GAP1 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 333142).
The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome (WARBM) (MedGen UID: 472601).
The RAD21 gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 766431) and autosomal dominant holoprosencephaly (PMID: 31334757). Additionally, the RAD21 gene has preliminary evidence supporting a correlation with autosomal recessive chronic intestinal pseudo-obstruction (CIPO), or Mungan syndrome (MedGen UID: 369554).
The RAI1 gene is associated with autosomal dominant Smith-Magenis syndrome (MedGen UID: 162881), which usually results from a common 17p11.2 microdeletion that includes RAI1, as well as autosomal dominant Potocki-Lupski syndrome (PTLS) (MedGen UID: 894862), which usually results from a common 17p11.2 duplication that includes RAI1. Additionally, the RAI1 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic deafness (PMID: 27082237).
The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634).
The RAPSN gene is associated with autosomal recessive congenital myasthenic syndrome 11 (CMS11) (MedGen UID: 902189) and fetal akinesia deformation sequence 2 (FADS2) (MedGen UID: 941315).
The RARS gene is associated with autosomal recessive hypomyelinating leukodystrophy 9 (HLD9) (MedGen UID: 863760). Additionally, the RARS gene has preliminary evidence supporting a correlation with autosomal dominant chronic obstructive pulmonary disease (PMID: 26736064).
The RARS2 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) (MedGen UID: 370596).
The RBBP8 gene is associated with autosomal recessive forms of microcephaly, including Jawad syndrome (MedGen UID: 810673) and Seckel syndrome (MedGen UID: 338264).
The RBCK1 gene is associated with autosomal recessive polyglucosan body myopathy with or without immunodeficiency (PGBM1) (MedGen UID: 863042).
The RBM8A gene is associated with autosomal recessive thrombocytopenia absent radius (TAR) syndrome (MedGen UID: 61235).
The RBPJ gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 766662).
The RECQL4 gene is associated with autosomal recessive Rothmund-Thomson syndrome (RTS) (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602), and Baller-Gerold syndrome (BGS) (MedGen UID: 120532).
The REEP1 gene is associated with a spectrum of overlapping autosomal dominant conditions including hereditary spastic paraplegia 31 (SPG31) (MedGen UID: 377858) and distal hereditary motor neuropathy 5B (HMN5B) (MedGen UID: 766570). Additionally, the REEP1 gene has preliminary evidence supporting a correlation with autosomal recessive distal spinal muscular atrophy (DSMA6) (MedGen UID: 994200).
The REEP2 gene is associated with autosomal dominant and autosomal recessive hereditary spastic paraplegia 72 (SPG72) (MedGen UID:816490).
The REPS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with neurodegeneration with brain iron accumulation (MedGen UID: 1647672).
The RERE gene is associated with autosomal dominant neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) (MedGen UID: 934739).
The RFT1 gene is associated with autosomal recessive RFT1-congenital disorder of glycosylation (CDG-In) (MedGen UID: 383145).
The RFX6 gene is associated with autosomal recessive Mitchell-Riley syndrome (MedGen UID: 411637). Additionally, the RFX6 gene has preliminary evidence supporting a correlation with maturity onset diabetes of the young (MODY) (PMID: 29026101).
The RHOBTB2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1633501).
The RIN2 gene is associated with autosomal recessive macrocephaly, alopecia, cutis laxa, and scoliosis (MedGen UID: 416526).
The RINT1 gene is associated with autosomal recessive Infantile liver failure syndrome (MedGen UID: 1684678). There is also limited evidence suggesting RINT1 has a possible association with autosomal dominant predisposition to breast cancer (PMID: 22357538); however, this has not been replicated in large meta-analyses (PMID: 33471991).
The RIPPLY2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spondylocostal dysostosis (PMID: 33410135, 26238661).
The RMND1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 11 (COXPD 11) (MedGen UID: 766981).
The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders (MedGen UID: 375972).
The RNASEH1 gene is associated with autosomal recessive progressive external ophthalmoplegia (PEO) with mitochondrial DNA (mtDNA) deletions (MedGen UID: 850959).
The RNASEH2A gene is associated with autosomal recessive Aicardi Goutieres syndrome 4 (AGS4) (MedGen UID: 332084).
The RNASEH2B gene is associated with autosomal recessive Aicardi Goutieres syndrome 2 (AGS2) (MedGen UID: 483677).
The RNASEH2C gene is associated with autosomal recessive Aicardi Goutieres syndrome 3 (AGS3) (MedGen UID: 324389).
The RNASET2 gene is associated with autosomal recessive cystic leukoencephalopathy, without megalencephaly (MedGen UID: 416646), and has clinical overlap with Aicardi Goutierres syndrome.
The RNF216 gene is associated with autosomal recessive Gordon Holmes syndrome (MedGen UID: 349137).
The RNU4ATAC gene is associated with autosomal recessive Roifman syndrome (MedGen UID: 375801), microcephalic osteodysplastic primordial dwarfism (MedGen UID: 347149), and Lowry-Wood syndrome (PMID: 29265708, 30368667).
The ROR2 gene is associated with autosomal dominant brachydactyly (MedGen UID: 349432) and autosomal recessive Robinow syndrome (MedGen UID: 341431).
The RPGRIP1L gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The RPIA gene is associated with autosomal recessive ribose 5-phosphate isomerase deficiency (RPID) (MedGen UID: 220946).
The RPN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive RPN2-congenital disorder of glycosylation (RPN2-CDG) (PMID: 19835842).
The RPS6KA3 gene is associated with X-linked Coffin Lowry syndrome (MedGen UID: 75556) and isolated intellectual disability (MedGen UID: 208676).
The RPS6KC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive developmental delay with brain abnormalities and delayed myelination (PMID: 27435318).
The RRM2B gene is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 (PEOA5) (MedGen UID: 413981) and autosomal recessive mitochondrial DNA depletion syndrome 8A (MDS8A) (MedGen UID: 412815).
The RSPO2 gene is associated with autosomal recessive tetra-amelia syndrome (MedGen UID: 1648284).
The RSPRY1 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) (MedGen UID: 908562).
The RTN2 gene is associated with autosomal dominant hereditary spastic paraplegia 12 (SPG12) (MedGen UID: 347618).
The RTTN gene is associated with autosomal recessive microcephaly, short stature, and polymicrogyria with or without seizures (MedGen UID: 766745).
The RUNX2 gene is associated with autosomal dominant cleidocranial dysplasia (CCD) (MedGen UID: 3486) and autosomal dominant metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MedGen UID: 762788). Additionally, the RUNX2 gene has preliminary evidence supporting a correlation with craniosynostosis (PMID: 20683987, 17621648, 23348268).
The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).
The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).
The SALL1 gene is associated with autosomal dominant Townes-Brocks syndrome (MedGen UID: 75555). Additionally, the SALL1 gene has preliminary evidence supporting a correlation with autosomal recessive Townes-Brocks syndrome (PMID: 23069192).
The SALL4 gene is associated with a spectrum of autosomal dominant SALL4-related disorders: Duane-radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and Holt-Oram syndrome (HOS) (MedGen UID: 301647, 831194, 833793). Additionally, the SALL4 gene has preliminary evidence supporting a correlation with autosomal recessive microphthalmia, anophthalmia, coloboma spectrum (MAC) (PMID: 27661448).
The SAMD9L gene is associated with autosomal dominant ataxia-pancytopenia (AP) syndrome (MedGen UID: 230896) and systemic autoinflammatory disease (PMID: 34417303, 31874111).
The SAMHD1 gene is associated with autosomal recessive Aicardi-Goutieres syndrome 5 (AGS5) (MedGen UID 413116).
The SAR1B gene is associated with autosomal recessive chylomicron retention disease (CMRD) (MedGen UID: 208651).
The SARS2 gene is associated with autosomal recessive hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA) syndrome (MedGen UID: 462559). Additionally, the SARS2 gene has preliminary evidence supporting a correlation with autosomal recessive progressive spastic paresis (PMID: 28716262, 27279129).
The SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765).
The SC5D gene is associated with autosomal recessive lathosterolosis (MedGen UID: 375885).
The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).
The SCARF2 gene is associated with autosomal recessive Van den Ende-Gupta syndrome (MedGen UID: 322127).
The SCLT1 gene is associated with autosomal recessive orofaciodigital syndrome IX (OFD9) (PMID: 24285566, 27894351) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28005958). Additionally, the SCLT1 gene has preliminary evidence supporting a correlation with autosomal recessive Senior-Loken syndrome (PMID: 30425282).
The SCN1A gene is associated with a spectrum of autosomal dominant and autosomal recessive seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). The SCN1A gene is also associated with autosomal dominant familial hemiplegic migraine 3 (FHM3) (MedGen UID: 400655) and autosomal dominant arthrogryposis multiplex congenita (AMC) (PMID: 32928894).
The SCN2A gene is associated with autosomal dominant benign familial neonatal-infantile seizures (BFNIS) (MedGen UID: 375105), developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462337), episodic ataxia (PMID: 20956790, 26645390), intellectual disability (ID) (PMID: 23020937) and autism spectrum disorder (ASD) (PMID: 22495306).
The SCN3A gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1631233) and childhood onset epilepsy (MedGen UID: 910257).
The SCN4A gene is associated with autosomal dominant hypokalemic periodic paralysis type 2 (HOKPP2) (MedGen UID: 413748), hyperkalemic periodic paralysis (HYPP) (MedGen UID: 68665), paramyotonia congenita (PMC) (MedGen UID: 113142), and potassium-aggravated myotonia (MedGen UID: 444151). It is also associated with autosomal dominant and autosomal recessive congenital myopathy (PMID: 26700687, 32117035) and there is preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome 16 (CMS16) (MedGen UID: 481742).
The SCN8A gene is associated with a spectrum of autosomal dominant seizure disorders ranging from benign familial neonatal seizures (MedGen UID: 934695), epilepsy with mild cognitive impairment (PMID: 30968951, 32651551) to developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 482821). The SCN8A gene is also associated with autosomal dominant familial myoclonus 2 (MYOCL2) (MedGen UID: 1683864).
The SCO1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (also referred to as cytochrome-c oxidase deficiency) (MedGen UID: 75662).
The SCO2 gene is associated with autosomal recessive cardioencephalomyopathy due to mitochondrial complex IV deficiency (MedGen UID: 346817). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (PMID: 29351582) and fatal infantile hyperthermia (PMID: 23364397).
The SCP2 gene is associated with autosomal recessive leukoencephalopathy with dystonia and motor neuropathy (MedGen UID: 462340). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (PMID: 33713422).
The SCYL1 gene is associated with autosomal recessive spinocerebellar ataxia-21, referred to as CALFAN syndrome (MedGen UID: 895546).
The SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and Senior-Loken syndrome (MedGen UID: 462227).
The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), and autosomal dominant and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHA gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 26722403) and pituitary adenomas (PMID: 26259135, 32621582).
The SDHAF1 gene is associated with autosomal recessive infantile leukoencephalopathy (MedGen UID: 344401).
The SDHB gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 349380) and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHB gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pituitary adenomas (PMID: 26259135).
The SDHC gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 340200). Additionally, the SDHC gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to pituitary adenomas (PMID: 26259135, 32621582).
The SDHD gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 358258) and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHD gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 19802898, 23083876) and pituitary adenomas (PMID: 26259135).
The SEC23A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive craniolenticulosutural dysplasia (CLSD) (PMID: 16980979, 21039434; MedGen UID: 334671).
The SEC23B gene is associated with autosomal recessive SEC23B-CDG, also known as congenital dyserythropoietic anemia, type II (CDAII) (MedGen UID: 266296). Additionally, the SEC23B gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome (PMID: 26522472).
The SEC24D gene is associated with autosomal recessive Cole-Carpenter syndrome (MedGen UID: 905199).
The SEC63 gene is associated with autosomal dominant polycystic liver disease (MedGen UID: 165781).
The SEPSECS gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 2D (MedGen UID: 462490).
The SERAC1 gene is associated with autosomal recessive 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome (MedGen UID: 766511).
The SERPINA1 gene is associated with autosomal recessive alpha-1-antitrypsin deficiency (AATD) (MedGen UID: 67461).
The SERPINF1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 481194).
The SERPINH1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 462561).
The SETBP1 gene is associated with autosomal dominant Schinzel-Giedion syndrome (SGS) (MedGen UID: 120517) and intellectual disability (MedGen UID: 863578).
The SETD2 gene is associated with autosomal dominant Luscan-Lumish syndrome (LLS) (MedGen UID: 898669) and autosomal dominant Rabin-Pappas syndrome (RAPAS) (MedGen UID: 1824042).
The SETD5 gene is associated with an autosomal dominant neurodevelopmental syndrome (MedGen UID: 816736).
The SETX gene is associated with autosomal dominant amyotrophic lateral sclerosis 4 (ALS4) (MedGen UID: 355983) and autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) (MedGen UID: 340052).
The SF3B4 gene is associated with autosomal dominant acrofacial dysostosis (MedGen UID: 120519).
The SFRP4 gene is associated with autosomal recessive Pyle metaphyseal dysplasia (MedGen UID: 82704).
The SFXN4 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 18 (COXPD18) (MedGen UID: 816331).
The SGCE gene is associated with autosomal dominant dystonia (DYT11) (MedGen UID: 331778) and autosomal dominant generalized epilepsy (PMID: 15389977, 24297365).
The SGMS2 gene is associated with autosomal dominant doughnut lesion of calvaria and bone fragility syndrome (MedGen UID: 377572).
The SGSH gene is associated with autosomal recessive mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome A (MedGen UID: 39264).
The SH2B1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 25363768, 25661985), obesity (PMID: 24971614, 23160192, 29216354, 17235396 ) and other SH2B1-related conditions (PMID: 30803986, 29073591).
The SH3PXD2B gene is associated with autosomal recessive Frank-Ter Haar syndrome (FTHS) (MedGen UID: 383652).
The SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581).
The SHH gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 327125).
The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 1379805), which is one of the RASopathies (MedGen UID: 1792298).
The SHPK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with sedoheptulokinase deficiency (MedGen UID: 713680).
The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).
The SIM1 gene is associated with autosomal dominant obesity due to SIM1 deficiency (MedGen UID: 1680592).
The SIRT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant type 1 diabetes (PMID: 23473037).
The SIX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant frontonasal dysplasia (PMID: 26581443, 29315086), congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 18305125, 29194579), and autism spectrum disorder (PMID: 28407358).
The SIX3 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 322517).
The SKI gene is associated with autosomal dominant Shprintzen-Goldberg syndrome (MedGen UID: 231160).
The SLC10A2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with primary bile acid malabsorption and hypertriglyceridaemia (PMID: 9109432, 11742882).
The SLC10A7 gene is associated with autosomal recessive short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MedGen UID: 941290).
The SLC12A1 gene is associated with autosomal recessive Bartter syndrome type 1 (MedGen UID: 355727).
The SLC12A2 gene is associated with autosomal dominant nonsyndromic deafness (PMID: 32294086), autosomal dominant Delpire-McNeill syndrome (PMID: 32658972), and autosomal recessive Kilquist syndrome (MedGen UID: 976203).
The SLC12A3 gene is associated with autosomal recessive Gitelman syndrome (MedGen UID: 75681).
The SLC12A5 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 899149).
The SLC12A6 gene is associated with autosomal dominant Charcot-Marie-Tooth disease (PMID: 31439721) and autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (ACCPN), also known as Andermann syndrome (MedGen UID: 162893).
The SLC13A3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) (MedGen UID: 941317).
The SLC13A5 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863058).
The SLC16A1 gene is associated with autosomal dominant and recessive monocarboxylate transporter 1 deficiency (MCT1D) (MedGen UID: 863623). Additionally, the SLC16A1 gene has preliminary evidence supporting a correlation with autosomal dominant exercise-induced hyperinsulinemic hypoglycemia (HHF7) (MedGen UID: 351246) and erythrocyte lactate transporter defect (MedGen UID: 344529).
The SLC16A2 gene is associated with X-linked SLC16A2-specific thyroid hormone cell transporter deficiency, also known as hereditary spastic paraplegia 22 (SPG22) and Allan-Herndon-Dudley syndrome (AHDS) (MedGen UID: 208645).
The SLC17A5 gene is associated with autosomal recessive sialic acid storage disorders including infantile free sialic acid storage disease (ISSD) (MedGen UID: 203367) and Salla disease (MedGen UID: 203368).
The SLC18A2 gene is associated with autosomal recessive brain dopamine-serotonin vesicular transport disease (MedGen UID: 929215).
The SLC19A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myelomeningocele and autosomal recessive megaloblastic folateādependent anemia (PMID: 28948692, 32276275).
The SLC19A2 gene is associated with autosomal recessive thiamine-responsive megaloblastic anemia (MedGen UID: 83338).
The SLC19A3 gene is associated with autosomal recessive thiamine metabolism dysfunction syndrome 2 (THMD2), also known as biotin-responsive basal ganglia disease (BBGD) (MedGen UID: 375289).
The SLC1A2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934684).
The SLC1A3 gene is associated with autosomal dominant episodic ataxia type 6 (EA6) (MedGen UID: 390739). Additionally, the SLC1A3 gene has preliminary evidence supporting a correlation with autosomal dominant developmental delay and/or autism (PMID: 27296938).
The SLC1A4 gene is associated with autosomal recessive spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) (MedGen UID: 900192). Additionally, the SLC1A4 gene has preliminary evidence supporting a correlation with autosomal dominant spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) (PMID: 37194416).
The SLC20A2 gene is associated with autosomal dominant primary basal ganglia calcification 1 (BGC1) (MedGen UID: 1637664).
The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).
The SLC25A1 gene is associated with autosomal recessive combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA) (MedGen UID: 412535) and congenital myasthenic syndrome (MedGen UID: 1648392).
The SLC25A12 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 414492).
The SLC25A13 gene is associated with autosomal recessive citrin deficiency (MedGen UID: 372684).
The SLC25A15 gene is associated with autosomal recessive hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (MedGen UID: 82815).
The SLC25A19 gene is associated with autosomal recessive microcephaly, Amish type (MCPHA; AKA THMD3) (MedGen UID: 375938) and autosomal recessive thiamine metabolism dysfunction syndrome-4 (THMD4) (MedGen UID: 462323).
The SLC25A20 gene is associated with autosomal recessive carnitine-acylcarnitine translocase (CACT) deficiency (MedGen UID: 91000).
The SLC25A21 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial DNA depletion syndrome 18 (MTDPS18) (MedGen UID: 946400).
The SLC25A22 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 124373).
The SLC25A24 gene is associated with autosomal dominant Fontaine progeroid syndrome (MedGen UID: 394125).
The SLC25A26 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 28 (COXPD28) (MedGen UID: 907499).
The SLC25A3 gene is associated with autosomal recessive mitochondrial phosphate carrier deficiency (MPCD) (MedGen UID: 324373).
The SLC25A32 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive riboflavin-responsive exercise intolerance (RREI) (MedGen UID: 896368).
The SLC25A38 gene is associated with autosomal recessive pyridoxine-refractory congenital sideroblastic anemia (CSA) (MedGen UID: 899109).
SLC25A4 is associated with autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions (PEOA2) (MedGen UID: 322925), autosomal dominant mitochondrial DNA depletion syndrome (MTDPS12A) (MedGen UID: 934643) and autosomal recessive mitochondrial DNA depletion syndrome (MTDPS12B) (MedGen UID: 815773).
The SLC25A42 gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 941419).
The SLC25A46 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 6B (CMT6B), also known as hereditary motor and sensory neuropathy type 6B (HMSN6B) (MedGen UID: 895482) and pontocerebellar hypoplasia (PCH) (PMID: 28653766, 27543974).
The SLC26A2 gene is associated with autosomal recessive achondrogenesis, type IB (ACG1B) (MedGen UID: 78547), atelosteogenesis type 2 (AO2) (MedGen UID: 338072), diastrophic dysplasia (DTD) (MedGen UID: 113103), and multiple epiphyseal dysplasia 4 (EDM4) (MedGen UID: 376164).
The SLC27A5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with bile acid amidation defect (PMID: 22089923).
The SLC29A3 is associated with autosomal recessive histiocytosis-lymphadenopathy plus syndrome (MedGen UID: 400532) and dysosteosclerosis (PMID: 22875837, 30537558).
The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412).
The SLC2A2 gene is associated with autosomal recessive Fanconi-Bickel syndrome (MedGen UID: 501176).
The SLC30A10 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 412958).
The SLC33A1 gene is associated with autosomal recessive congenital cataracts, hearing loss, and neurodegeneration (MedGen UID: 482595). Additionally, the SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407).
The SLC34A1 gene is associated with autosomal recessive infantile hypercalcemia (MedGen UID: (934441). Additionally, the SLC34A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis (MedGen UID: 436776) and autosomal recessive fanconi renotubular syndrome (MedGen UID: 462002).
The SLC34A3 gene is associated with autosomal recessive hereditary hypophosphatemic rickets with hypercalciuria (HHRH) (MedGen UID: 501133). Additionally, the SLC34A3 gene has preliminary evidence supporting a correlation with hypercalciuria with reduced penetrance (PMID: 16358214, 22387237, 29809158).
SLC35A1 is associated with autosomal recessive SLC35A1-congenital disorder of glycosylation (CDG-IIf) (MedGen UID 370234).
The SLC35A2 gene is associated with the X-linked dominant congenital disorder of glycosylation SLC35A2-CDG (CDG-IIm) (MedGen UID 813018).
The SLC35A3 gene is associated with autosomal recessive arthrogryposis, intellectual disability, and seizures (MedGen UID: 816240).
SLC35C1 is associated with autosomal recessive SLC35C1-congenital disorder of glycosylation (CDG-IIc) (MedGen UID 162913).
The SLC35D1 gene is associated with autosomal recessive Schneckenbecken dysplasia (SBD) (MedGen UID: 98475).
The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type Ib (GSD Ib) (MedGen UID: 78644) and autosomal dominant SLC37A4-CDG (also known as congenital disorder of glycosylation type IIw or CDG2w) (PMID: 32884905).
The SLC39A13 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 3 (MedGen UID: 393515).
The SLC39A14 gene is associated with autosomal recessive hypermanganesemia with dystonia (MedGen UID: 934732). Additionally, the SLC39A14 gene has preliminary evidence supporting a correlation with autosomal dominant hyperostosis carnialis interna (MedGen UID: 327093).
The SLC39A8 gene is associated with autosomal recessive SLC39A8-congenital disorder of glycosylation (CDG IIn) (MedGen UID: 852046).
The SLC3A1 gene is associated with autosomal recessive cystinuria (MedGen UID: 8226). Contiguous deletions of the PREPL and SLC3A1 genes are associated with autosomal recessive hypotonia-cystinuria deletion syndrome (MedGen UID: 341133).
The SLC46A1 gene is associated with autosomal recessive hereditary folate malabsorption (MedGen UID: 83348).
The SLC51B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive primary bile acid malabsorption (PBAM2) (MedGen UID: 982637)
The SLC52A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant riboflavin transporter deficiency (MedGen UID: 20573).
The SLC52A2 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 2 [BVVLS2]) (MedGen UID: 766452).
The SLC52A3 gene is associated with autosomal recessive riboflavin transporter deficiency neuronopathy (also known as Brown-Vialetto-Van Laere syndrome 1 [BVVLS1]) (MedGen UID: 881160).
The SLC5A1 gene is associated with autosomal recessive glucose-galactose malabsorption (GGM) (MedGen UID: 78647).
The SLC6A1 gene is associated with autosomal dominant SLC6A1-related neurodevelopmental disorder (MedGen UID: 905978).
The SLC6A19 gene is associated with autosomal recessive Hartnup disorder (MedGen UID: 6723).
The SLC6A3 gene is associated with autosomal recessive infantile parkinsonism-dystonia 1 (PKDYS1) (MedGen UID: 1648442).
The SLC6A5 gene is associated with autosomal recessive hyperekplexia (MedGen UID: 766202).
The SLC6A8 gene is associated with X-linked recessive creatine transporter deficiency (CTD) (MedGen UID: 337451).
The SLC6A9 gene is associated with autosomal recessive glycine encephalopathy with normal serum glycine (MedGen UID: 909928).
The SLC7A13 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive neurodevelopmental condition (PMID: 22494076).
The SLC7A7 gene is associated with autosomal recessive lysinuric protein intolerance (LPI) (MedGen UID: 75704).
The SLC7A9 gene is associated with autosomal recessive cystinuria type B, formerly known as non-type 1 cystinuria (MedGen UID: 8226). Autosomal dominant inheritance with reduced penetrance has also been reported (PMID:1157794, 25296721).
The SLC9A1 gene is associated with autosomal recessive Lichtenstein-Knorr syndrome (LIKNS) (MedGen UID: 898996). Additionally, the SLC9A1 gene has preliminary evidence supporting a correlation with autosomal dominant intellectual disability (PMID: 25590979).
The SLC9A6 gene is associated with Christianson syndrome, also known as X-linked dominant Angelman-like syndrome (MedGen UID: 394455).
The SLC9A7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an X-linked intellectual disability (PMID: 30335141).
The SLCO2A1 gene is associated with autosomal recessive primary hypertrophic osteoarthropathy (PHOAR1) (MedGen UID: 482430) and chronic enteropathy associated with the SLCO2A1 gene, also known as cryptogenic multifocal ulcerous stenosing enteritis (CEAS/CMUSE) (MedGen UID: 1800261). Additionally, the SLCO2A1 gene has preliminary evidence supporting a correlation with a mild, autosomal dominant form of primary hypertrophic osteoarthropathy (PMID: 33852188).
The SLCO5A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mesomelia-synostoses syndrome (MedGen UID: 463378).
The SMAD2 gene is associated with autosomal dominant Loeys-Dietz syndrome (PMID: 29392890, 26247899) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (PMID: 26247899). Additionally, the SMAD2 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 23665959).
The SMAD3 gene is associated with autosomal dominant Loeys-Dietz syndrome 3 (LDS3) (MedGen UID: 462437) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 1644766).
The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518), hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400), familial thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 1644766), and Myhre syndrome (MedGen UID: 167103).
The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease (MedGen UID: 762200), craniosynostosis (MedGen UID: 1392447), syndromic structural heart defects (PMID: 22275001), and radioulnar synostosis (RUS) (PMID: 31138930).
The SMARCA2 gene is associated with autosomal dominant Nicolaides-Baraitser syndrome (NBS) (MedGen UID: 220983).
The SMARCA4 gene is associated with rhabdoid tumor predisposition syndrome, type 2 (RTPS2), autosomal dominant small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) (PMID: 24658002, 24658001), and Coffin-Siris syndrome (CSS) (MedGen UID: 766163).
The SMARCAL1 gene is associated with autosomal recessive Schimke immunoosseous dysplasia (SIOD) (MedGen UID: 164078).
The SMARCB1 gene is associated with autosomal dominant rhabdoid tumor predisposition syndrome 1 (RTPS1) (MedGen UID: 322892), schwannomatosis (MedGen UID: 234775), and Coffin-Siris syndrome (CSS) (MedGen UID: 766162).
The SMARCE1 gene is associated with autosomal dominant familial meningioma (MedGen UID: 232281) and Coffin-Siris syndrome (MedGen UID: 934755).
The SMC1A gene is associated with X-linked dominant Cornelia de Lange syndrome (MedGen UID: 315658), early infantile epileptic encephalopathy (EIEE) (PMID: 26386245, 27334371, 26358754) and holoprosencephaly (HPE) (PMID: 28166369, 31334757).
The SMC3 gene is associated with autosomal dominant Cornelia de Lange syndrome (MedGen UID: 339902).
The SMOC1 gene is associated with autosomal recessive ophthalmo-acromelic syndrome (MedGen UID: 154638).
The SMPD1 gene is associated with autosomal recessive acid sphingomyelinase (ASM) deficiency, which includes Niemann-Pick disease type A (MedGen UID: 78650) and Niemann-Pick disease type B (MedGen UID: 78651).
The SMS gene is associated with X-linked recessive Snyder-Robinson syndrome (MedGen UID: 162918)
The SNAP29 gene is associated with autosomal recessive cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome (MedGen UID: 332113).
The SNCA gene is associated with a spectrum of autosomal dominant neurological conditions collectively known as the synucleinopathies (MedGen UID: 1682194), including Parkinson disease 1 (PARK1) (MedGen UID: 357008), Parkinson disease 4 (PARK4) (MedGen UID: 381361), and dementia with Lewy bodies (DLB) (MedGen UID: 199874).
The SNIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive disorder of psychomotor impairment, epilepsy, and craniofacial dysmorphism (PMID: 22279524).
The SNORD118 gene is associated with autosomal recessive leukoencephalopathy with brain calcifications and cysts (LCC) (MedGen UID: 482830).
The SNRPB gene is associated with autosomal dominant cerebro-costo-mandibular syndrome (MedGen UID: 120537).
The SNX10 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 767392).
The SNX14 gene is associated with autosomal recessive spinocerebellar ataxia 20 (SCAR20) (MedGen UID: 903867).
The SOD1 gene is associated with autosomal dominant and recessive amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169). One SOD1 variant has been associated with autosomal recessive progressive spastic tetraplegia and axial hypotonia (STAHP) (MedGen UID: 1684731).
The SON gene is associated with autosomal dominant Zhu-Tokita-Takenouchi-Kim syndrome (ZTTKS) (MedGen UID: 934663).
The SOST gene is associated with autosomal recessive sclerosing bone dysplasias including sclerosteosis and van Buchem disease (VBD) (MedGen UID: 1642815). Additionally, the SOST gene has preliminary evidence supporting a correlation with autosomal dominant craniodiaphyseal dysplasia (CDD) (MedGen UID: 382678).
The SOX10 gene is associated with autosomal dominant Waardenburg syndrome type 4C and 2E (MedGen UID: 413310 and 398476), Kallman syndrome (PMID: 33442024), and PCWH (peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease) syndrome (MedGen UID: 373160).
The SOX11 gene is associated with autosomal dominant Coffin-Siris syndrome (CSS) (MedGen UID: 862965).
The SOX2 gene is associated with autosomal dominant syndromic microphthalmia (MedGen UID: 347232) and a developmental disorder without microphthalmia (PMID: 34562068).
The SOX3 gene is associated with X-linked panhypopituitarism (MedGen UID: 87439).
The SOX6 gene is associated with autosomal dominant Tolchin-Le Caignec syndrome (MedGen UID: 977193).
The SOX9 gene is associated with autosomal dominant campomelic dysplasia (MedGen UID: 354620).
The SP7 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 462783).
The SPARC gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 903845). Additionally, the SPARC gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).
The SPART gene (formerly known as SPG20) is associated with autosomal recessive hereditary spastic paraplegia 20 (SPG20), also known as Troyer syndrome (MedGen UID: 97950).
The SPAST gene is associated with autosomal dominant hereditary spastic paraplegia 4 (SPG4) (MedGen UID: 401097).
The SPATA5 gene is associated with autosomal recessive epilepsy, hearing loss, and intellectual disability syndrome (EHLIDS) (MedGen UID: 851728).
The SPECC1L gene is associated with a spectrum of autosomal dominant conditions including Teebi hypertelorism syndrome (MedGen UID: 208673) and Opitz GBBB syndrome (MedGen UID: 321463).
The SPG11 gene is associated with autosomal recessive hereditary spastic paraplegia 11 (SPG11) (MedGen UID: 388073), juvenile amyotrophic lateral sclerosis 5 (ALS5) (MedGen UID: 356388) and Charcot-Marie-Tooth disease type 2X (CMT2X) (MedGen UID: 895625).
The SPG21 gene (also known as ACP33), is associated with autosomal recessive hereditary spastic paraplegia 21 (SPG21), also known as Mast syndrome (MedGen UID: 343325).
The SPG7 gene is associated with autosomal dominant optic atrophy (PMID: 23065789, 32548275, 36367250) and autosomal recessive hereditary spastic paraplegia 7 (SPG7) (MedGen UID: 339552).
The SPR gene is associated with autosomal recessive sepiapterin reductase deficiency (MedGen UID: 120642). Additionally, the SPR gene has preliminary evidence supporting a correlation with autosomal dominant dopa-responsive dystonia (PMID: 15241655).
The SPTAN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462081), hereditary motor neuropathy (PMID: 31332438), and spastic paraplegia and cerebellar ataxia (PMID: 35150594). Additionally, the SPTAN1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 31515523).
The SPTBN2 gene is associated with autosomal dominant spinocerebellar ataxia 5 (SCA5) (MedGen UID: 155705) and autosomal recessive spinocerebellar ataxia 14 (SCAR14) (MedGen UID: 815657).
The SQSTM1 gene is associated with a spectrum of overlapping autosomal dominant neurological conditions including Paget disease of bone 3 (PDB3) (MedGen UID: 895927), distal myopathy with rimmed vacuoles (DMRV) (MedGen UID: 893965), and frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 897127). The SQSTM1 gene is also associated with autosomal recessive neurodegeneration with ataxia, dystonia and gaze palsy (NADGP) (MedGen UID: 934660).
The SRCAP gene is associated with autosomal dominant Floating-Harbor syndrome (FHS) (MedGen UID: 152667) and an autosomal dominant neurodevelopmental disorder (PMID: 33909990).
SRD5A3 is associated with autosomal recessive SRD5A3-congenital disorder of glycosylation (CDG-Iq) (MedGen UID 461541).
The SSR3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with congenital disorders of glycosylation (SSR3-CDG) (PMID: 32332102).
The SSR4 gene is associated with X-linked SSR4-CDG (CDG type 1y) (MedGen UID: 799560).
The ST3GAL3 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 767230).
The ST3GAL5 gene is associated with autosomal recessive GM3 synthase deficiency (MedGen UID: 323005).
The STAG2 gene is associated with X-linked Mullegama-Klein-Martinez syndrome (MedGen UID: 1683985) and X-linked holoprosencephaly-13 (HPE13) (MedGen UID: 1714826).
The STAMBP gene is associated with autosomal recessive microcephaly-capillary malformation syndrome (MICCAP) (MedGen UID: 481926).
The STAT1 gene is associated with autosomal recessive STAT1 deficiency (MedGen UID: 462438), autosomal dominant Mendelian susceptibility to mycobacterial disease (MedGen UID: 862387), and autosomal dominant STAT1 gain-of-function associated chronic mucocutaneous candidiasis (MedGen UID: 481620).
The STAT2 gene is associated with autosomal recessive STAT2 deficiency (MedGen UID: 904009) and autosomal recessive type I interferonopathy (MedGen UID: 1708513).
The STAT3 gene is associated with autosomal dominant Hyper-IgE syndrome (MedGen UID: 483748) and autosomal dominant STAT3 gain-of-function (MedGen UID: 925793).
The STN1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (MedGen UID: 1390862).
The STRADA gene is associated with autosomal recessive polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome (MedGen UID: 370203).
The STT3A gene is associated with autosomal recessive STT3A-congenital disorder of glycosylation (CDG-Iw) (PMID: 23842455, 28424003).
The STT3B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive STT3B-congenital disorder of glycosylation (CDG-Ix) (PMID: 23842455).
The STUB1 gene is associated with autosomal recessive spinocerebellar ataxia 16 (SCAR16) (MedGene UID: 862698) and autosomal dominant spinocerebellar ataxia (MedGen UID: 1648409).
The STX11 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 4 (FHL4) (MedGen UID: 350245).
The STXBP1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 436917). Additionally, the STXBP1 gene has preliminary evidence supporting a correlation with autism spectrum disorders (PMID: 22495311, 26537360).
The STXBP2 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 5 (FHL5) (MedGen UID: 416514). There is also preliminary evidence supporting a correlation with autosomal dominant familial hemophagocytic lymphohistiocytosis (PMID: 25564401).
The SUCLA2 gene is associated with autosomal recessive succinate-CoA ligase deficiency, a mitochondrial DNA depletion syndrome (MedGen UID: 413170).
The SUCLG1 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 9 (MTDPS9) (MedGen UID: 462826).
The SUCLG2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 34415331) and autosomal recessive mitochondrial DNA depletion syndrome (PMID: 21295139, 18392745).
The SUCO gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with osteogenesis imperfecta (PMID: 29620724).
The SUGCT gene is associated with autosomal recessive glutaric acidemia type III (MedGen UID: 87464).
The SULF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mesomelia-synostoses syndrome (MSS) (PMID: 20602915).
The SUMF1 gene is associated with autosomal recessive multiple sulfatase deficiency (MSD) (MedGen UID: 75664).
The SUOX gene is associated with autosomal recessive sulfite oxidase deficiency (MedGen UID: 78695).
The SURF1 gene is associated with autosomal recessive Leigh syndrome due to mitochondrial complex IV deficiency (MedGen UID: 44095) and Charcot-Marie-Tooth disease, type 4K (CMT4K) (MedGen UID:895560).
The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973) and myogenic-type arthrogryposis multiplex congenita 3 (AMC3) (MedGen UID: 1680655). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 4 (EDMD4) (MedGen UID: 414476) and dilated cardiomyopathy (PMID: 19944109, 17761684).
The SYNGAP1 gene is associated with autosomal dominant intellectual disability (MedGen UID: 382611) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 968420).
The SYNJ1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1374886) and early-onset Parkinson disease 20 (PARK20) (MedGen UID: 816154).
The TAB2 gene is associated with autosomal dominant polyvalvular syndrome (PMID: 28464518, 29700987, 34456334, 28386937) and frontometaphyseal dysplasia (FMD) (PMID: 28498505).
The TACO1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
The TAF1 gene is associated with X-Linked syndromic intellectual disability (MedGen UID: 895979). Additionally, the TAF1 gene has preliminary evidence supporting a correlation with dystonia-parkinsonism (MedGen UID: 326820).
The TAF2 gene is associated with autosomal recessive intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 816410).
The TALDO1 gene is associated with autosomal recessive transaldolase deficiency (TALDO deficiency) (MedGen UID: 224855).
The TANGO2 gene is associated with autosomal recessive recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN) (MedGen UID: 894196).
The TAPT1 gene is associated with autosomal recessive osteochondrodysplasia, Symoens-Barnes-Gistelinck type (MedGen UID: 900688). Additionally, the TAPT1 gene has preliminary evidence supporting a correlation with autosomal recessive pediatric cataracts (PMID: 27878435).
The TARDBP gene is associated with autosomal dominant amyotrophic lateral sclerosis 10 with or without frontotemporal dementia (ALS10) (MedGen UID: 383137, 461519). Additionally, the TARDBP gene has preliminary evidence supporting a correlation with autosomal dominant inclusion body myopathy (PMID: 37000196).
The TARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (COXPD21) (MedGen UID: 863105).
The TAT gene is associated with autosomal recessive tyrosinemia type II (MedGen UID: 75687).
The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005).
The TBC1D24 gene is associated with a spectrum of related conditions including autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815503), DOORS syndrome (MedGen UID: 387800), familial infantile myoclonic epilepsy (MedGen UID: 181488), progressive myoclonic epilepsy (PMID: 25401298), as well as autosomal recessive and autosomal dominant nonsyndromic hearing loss (MedGen UID: 760543, 856147).
The TBC1D7 gene is associated with an autosomal recessive macrocephaly syndrome (MedGen UID: 812742).
The TBCD gene is associated with autosomal recessive progressive early-onset encephalopathy with brain atrophy and thin corpus callosum (PEBAT) (MedGen UID: 934638).
The TBCE gene is associated with autosomal recessive Sanjad-Sakati syndrome (SSS) (MedGen UID: 340984), Kenney-Caffey syndrome (KCS) (MedGen UID: 340923), and progressive encephalopathy with amyotrophy and optic atrophy (PEAMO) (MedGen UID: 934634).
The TBCK gene is associated with autosomal recessive infantile hypotonia with intellectual disability and characteristic facies (MedGen UID: 894421).
The TBK1 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) (MedGen UID: 902979). Additionally the TBK1 gene has preliminary evidence supporting a correlation with autosomal dominant herpes simplex encephalitis (MedGen UID: 1646997) and normal-tension glaucoma (PMID: 24699864), and autosomal recessive systemic autoinflammation (PMID: 34363755).
The TBL1XR1 gene is associated with autosomal dominant Pierpont syndrome (MedGen UID: 356049), syndromic intellectual disability (MedGen UID: 934751), and West syndrome (PMID: 25102098, 35611576, 37171308).
The TBX1 gene is associated with autosomal dominant DiGeorge/velocardiofacial syndrome (MedGen UID: 4297) and is one of the commonly deleted genes in the recurrent 22q11.2 microdeletion.
The TBX15 gene is associated with autosomal recessive Cousin syndrome (MedGen UID: 342400).
The TBX19 is associated with autosomal recessive isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) (MedGen UID: 82882).
The TBX3 gene is associated with autosomal dominant ulnar-mammary syndrome (UMS) (MedGen UID: 357886).
The TBX5 gene is associated with autosomal dominant Holt-Oram syndrome (HOS) (MedGen UID: 120524).
The TBX6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spondylocostal dysostosis (PMID: 25564734, 31015262), Mayer-Rokitansky-KĆ¼ster-Hauser syndrome (PMID: 25813282, 23954021), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 30604070).
The TBXAS1 gene is associated with autosomal recessive Ghosal hematodiaphyseal dysplasia (MedGen UID: 344739).
The TCF12 gene is associated with autosomal dominant craniosynostosis (MedGen UID: 811568) and Kallman syndrome (PMID: 32620954).
The TCF4 gene is associated with autosomal dominant Pitt-Hopkins syndrome (MedGen UID: 370910).
The TCIRG1 gene is associated with autosomal recessive osteopetrosis due to TCIRG1 deficiency (MedGen UID: 376708).
The TCN1 gene is associated with autosomal recessive transcobalamin I (haptocorrin) deficiency, a biochemical phenotype which may or may not result in a clinical condition (MedGen UID: 90993).
The TCN2 gene is associated with autosomal recessive transcobalamin II deficiency (MedGen UID: 137976).
The TCOF1 gene is associated with autosomal dominant Treacher Collins syndrome 1 (MedGen UID: 468517).
The TCTEX1D2 gene (also known as DYNLT2B) is associated with autosomal recessive short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 1372794).
The TCTN1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 481661).
The TCTN2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TCTN3 gene is associated with autosomal recessive Joubert syndrome (Medgen UID: 766672) and orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358).
The TECPR2 gene is associated with autosomal recessive hereditary spastic paraplegia 49 (SPG49) (MedGen UID: 762260).
The TFAM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial DNA depletion syndrome (MedGen UID: 934657).
The TFG gene is associated with autosomal dominant hereditary motor and sensory neuropathy, Okinawa type (HMSNO) (MedGen UID: 346886) and autosomal recessive hereditary spastic paraplegia 57 (SPG57) (MedGen UID: 811490).
The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).
The TGDS gene is associated with autosomal recessive Catel-Manzke syndrome (MedGen ID: 375536).
The TGFB1 gene is associated with autosomal dominant Camurati-Engelmann disease (CED) (MedGen UID: 4268) and autosomal recessive inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) (MedGen UID: 1648434). Additionally, the TGFB1 gene has preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (PMID: 27577878) and acute aortic dissection (PMID: 30056620).
The TGFB2 gene is associated with autosomal dominant Loeys-Dietz syndrome 4 (LDS4) (MedGen UID: 766676) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 850745).
The TGFB3 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) (MedGen UID: 816342). Additionally, the TGFB3 gene has preliminary evidence supporting a correlation with autosomal dominant nonsyndromic thoracic aortic aneurysm and/or dissection (MedGen UID: 879960).
The TGFBR1 gene is associated with autosomal dominant nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766), Loeys-Dietz syndrome 1 (LDS1) (MedGen UID: 1646567), and multiple self-healing squamous epithelioma (MSSE) (MedGen UID: 154270).
The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome 2 (LDS2) (MedGen UID: 382398) and nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766).
The TGIF1 gene is associated with autosomal dominant holoprosencephaly (HPE) (MedGen UID: 374488).
The TGM6 gene is associated with autosomal dominant spinocerebellar ataxia 35 (SCA35) (MedGen UID: 854733).
The TH gene is associated with autosomal recessive tyrosine hydroxylase (TH) deficiency (MedGen UID: 382128).
The THAP1 gene is associated with autosomal dominant dystonia 6 (DYT6) (MedGen UID: 236274).
THAP11 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an intracellular cobalamin deficiency and developmental anomalies (PMID: 28449119).
The THPO gene is associated with autosomal dominant hereditary thrombocythemia (MedGen UID: 479301), autosomal dominant hereditary thrombocytopenia (PMID: 28466964), autosomal recessive aplastic anemia (PMID: 24085763), and autosomal recessive congenital amegakaryocytic thrombocytopenia (PMID: 36226497).
The TIMM50 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 1622927).
The TIMM8A gene is associated with X-linked recessive Mohr-Tranebjaerg syndrome (MedGen UID: 162903), also referred to as deafness-dystonia-optic neuronopathy (DDON) syndrome, or Jensen syndrome.
The TIMMDC1 gene is associated with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648395).
The TJP2 gene is associated with autosomal recessive progressive familial intrahepatic cholestasis (PFIC) (MedGen UID: 418976). Additionally, the TJP2 gene has preliminary evidence supporting a correlation with autosomal recessive familial hypercholanemia (PMID: 12704386) and autosomal dominant nonsyndromic deafness (PMID: 24752540, 26668150, 20602916).
The TK2 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 2 (MTDPS2) (MedGen UID: 461100).
The TM4SF20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant delay in early speech acquisition associated with leukoencephalopathy and autism spectrum disorder (PMID: 2381038, 27771533).
The TMCO1 gene is associated with autosomal recessive cerebro-facio-thoracic dysplasia (MedGen UID: 347111).
The TMEM106B gene is associated with autosomal dominant hypomyelinating leukodystrophy (MedGen UID: 1631337).
The TMEM107 gene is associated with with autosomal recessive Joubert syndrome (PMID: 26123494, 26595381). In addition, there is preliminary evidence supporting a correlation with autosomal recessive oro-facio-digital syndrome (OFD) (PMID: 28289185, 26595381, 26518474).
The TMEM126A gene is associated with autosomal recessive optic atrophy 7 (OPA7) (MedGen UID: 414112).
The TMEM126B gene is associated with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648451).
The TMEM138 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482536) . In addition, there is preliminary evidence suggesting a correlation with autosomal recessive oro-facio-digital syndrome (OFD)(PMID: 28289185)
TMEM165 is associated with autosomal recessive TMEM165-congenital disorder of glycosylation (CDG-IIk) (MedGen UID 472402).
The TMEM199 gene is associated with autosomal recessive TMEM199-congenital disorder of glycosylation (CDG-IIp) (MedGen UID: 895025).
The TMEM216 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM231 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM237 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482396).
The TMEM240 gene is associated with autosomal dominant spinocerebellar ataxia 21 (SCA21) (MedGen UID: 375311).
The TMEM38B gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 767342).
The TMEM67 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).
The TMTC3 gene is associated with autosomal recessive cortical malformations, also known as lissencephaly (MedGen UID: 934613).
The TNFRSF11A gene is associated with autosomal recessive osteopetrosis 7 (MedGen UID: 436770) and a heterogeneous group of related autosomal dominant expansile osteolytic syndromes including familial expansile osteolysis (MedGen UID: 96593), early onset familial Paget disease of bone (MedGen UID: 899166), expansile skeletal hyperphosphatasia (PMID: 11771666), and panostotic expansile bone disease (PMID: 24014458). Additionally, the TNFRSF11A gene has preliminary evidence supporting a correlation with autosomal dominant hereditary recurrent fevers (PMID: 24891336).
The TNFRSF11B gene is associated with autosomal recessive juvenile Paget disease of bone (MedGen UID: 75678) and autosomal dominant osteoarthritis with chondrocalcinosis (PMID: 24743232, 29578045).
The TNFSF11 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 342420).
The TOE1 gene is associated with autosomal recessive pontocerebellar hypoplasia (MedGen UID: 767140).
The TONSL gene is associated with autosomal recessive sponastrime dysplasia (MedGen UID:Ā 266247).
The TOP1MT gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with congenital anomalies of the kidney and urinary tract and mitochondrial deficiency (PMID: 28819183, 30143558).
The TOP3A gene is associated with autosomal recessive Bloom-like syndrome (MedGen UID: 1648384) and progressive external ophthalmoplegia with mitochondrial deletions (MedGen UID: 1648331).
The TOR1A gene is associated with autosomal dominant dystonia 1 (DYT1) (MedGen UID: 338823) and autosomal recessive arthrogryposis multiplex congenita 5 (AMC5) (MedGen UID: 966793).
The TP53RK gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1613511).
The TP63 gene is associated with autosomal dominant primary ovarian insufficiency (PMID: 35801529) and autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) (MedGen UID: 347666), Hay-Wells syndrome (MedGen UID: 98032), limb-mammary syndrome (MedGen UID: 355051), Rapp-Hodgkin syndrome (MedGen UID: 315656), and split-hand/foot malformation (MedGen UID: 343120), collectively known as TP63-related conditions.
The TPI1 gene is associated with autosomal recessive triosephosphate isomerase deficiency (MedGen UID: 349893).
The TPK1 gene is associated with autosomal recessive thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (MedGen UID: 482496).
The TRAF3IP1 gene is associated with autosomal recessive Senior-Loken syndrome (MedGen UID: 899086) and autosomal recessive short-rib thoracic dysplasia (PMID: 29068549).
The TRAIP gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 78534).
The TRAK1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 308350).
The TRAP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with intellectual disability, Parkinsonās disease and autoinflammatory disease (PMID: 29050400, 28097321, 28750028).
The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).
The TRAPPC12 gene is associated with autosomal recessive progressive encephalopathy with brain atrophy and spasticity (PEBAS) (MedGen UID: 1622413).
The TRAPPC2 gene is associated with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) (MedGen UID: 762085)
The TRAPPC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27894351).
The TRAPPC6B gene is associated with an autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (NEDMEBA) (MedGen UID: 1637443).
The TRAPPC9 gene is associated with autosomal recessive intellectual disability (ID) (MedGen UID: 442564).
The TREM2 gene is associated with autosomal recessive polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (PLOSL2) (MedGen UID: 1648374) and frontotemporal dementia (PMID: 23318515, 23582655). Additionally, the TREM2 gene has preliminary evidence supporting a correlation with autosomal dominant late-onset Alzheimer disease (PMID: 23150908, 24899047).
The TREX1 gene is associated with autosomal recessive (and rarely, autosomal dominant) Aicardi-Goutieres syndrome 1 (AGS1) (MedGen ID: 162912), autosomal dominant familial chilblain lupus (CHBL1) (MedGen UID: 479249), and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL) (MedGen UID: 348124). In addition, the TREX1 gene has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818).
The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID: 78750).
The TRIM37 gene is associated with autosomal recessive mulibrey nanism (MedGen UID: 99347).
The TRIP11 gene is associated with a spectrum of autosomal recessive conditions ranging from TRIP11-CDG, also known as achondrogenesis Type 1A (MedGen UID: 78546), to odontochondrodysplasia (ODCD) (MedGen UID: 411198).
The TRIP4 gene is associated with autosomal recessive spinal muscle atrophy with congenital bone fractures 1 (SMABF1) (MedGen UID: 896011). Additionally, the TRIP4 gene has preliminary evidence supporting a correlation with autosomal recessive congenital muscular dystrophy (MedGen UID: 934703).
The TRIT1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 35 (COXPD35) (MedGen UID: 1639653).
The TRMT10A gene is associated with autosomal recessive microcephaly, short stature, and impaired glucose metabolism (MSSGM) (MedGen UID: 863434).
The TRMT10C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 934740).
The TRMT5 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 26 (COXPD26) (MedGen UID: 907399).
The TRMU gene is associated with autosomal recessive transient infantile liver failure (MedGen UID: 480294).
The TRNT1 gene is associated with autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) (MedGen UID: 863609) and retinitis pigmentosa with erythrocytic microcytosis (RPEM) (MedGen UID: 934743).
The TRPC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spinocerebellar ataxia 41 (SCA41) (MedGen UID: 908281).
The TRPM6 gene is associated with autosomal recessive familial hypomagnesemia with secondary hypocalcemia (MedGen UID: 355596).
The TRPS1 gene is associated with autosomal dominant trichorhinophalangeal syndrome (TRPS) (MedGen UID: 140929).
The TRPV4 gene is associated with a spectrum of overlapping autosomal dominant conditions including Charcot-Marie-Tooth disease type 2C (CMT2C) (MedGen UID: 342947), also referred to as distal hereditary motor neuropathy type 8 (HMN8) (MedGen UID: 373984) or scapuloperoneal spinal muscular atrophy (SPSMA) (MedGen UID: 148283), and multiple TRPV4-related skeletal dysplasias (MedGen UID: 975206).
The TRRAP gene is associated with an autosomal dominant intellectual disability syndrome with or without autism and dysmorphic facies (MedGen UID: 1679263).
The TSC1 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 344288).
The TSC2 gene is associated with autosomal dominant tuberous sclerosis complex (TSC) (MedGen UID: 348170).
The TSEN54 gene is associated with autosomal recessive pontocerebellar hypoplasia type 2A, type 4 and type 5 (PCH2A, PCH4, PCH5) (MedGen UID: 376379, 384027, 341845).
The TSFM gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 3 (COXPD3) (MedGen UID: 355842).
The TTBK2 gene is associated with autosomal dominant spinocerebellar ataxia 11 (SCA11) (MedGen UID: 346799).
The TTC19 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 2 (MC3DN2) (MedGen UID: 767519).
The TTC21B gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462536) and asphyxiating thoracic dystrophy (MedGen UID: 462535).
The TTC26 gene is associated with an autosomal recessive biliary ciliopathy (PMID: 31595528).
The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347181) and nonsyndromic retinitis pigmentosa (MedGen UID: 462065).
The TTPA gene is associated with autosomal recessive ataxia with vitamin E deficiency (AVED) (MedGen UID: 341248).
The TTR gene is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (MedGen UID: 414031).
The TUBA1A gene is associated with autosomal dominant cortical malformations (MedGen UID: 369910).
The TUBA8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive developmental and epileptic encephalopathy (PMID: 29588952) and autosomal dominant polymicrogyria (PMID: 31481326).
The TUBB2A gene is associated with autosomal dominant cortical malformation syndrome (MedGen UID: 816737).
The TUBB2B gene is associated with autosomal dominant cortical malformations, also known as asymmetric polymicrogyria (MedGen UID: 765150). Additionally, the TUBB2B gene has preliminary evidence supporting a correlation with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome (PMID: 28013290).
The TUBB3 gene is associated with autosomal dominant cortical dysplasia with other brain malformations (MedGen UID: 814727) and autosomal dominant congenital fibrosis of the extraocular muscles (MedGen UID: 412638).
The TUBB4A gene is associated with a spectrum of autosomal dominant conditions including dystonia 4 (DYT4) (MedGen UID: 342124) and hypomyelinating leukodystrophy 6 (HLD6) (MedGen UID: 436642).
The TUBG1 gene is associated with autosomal dominant cortical malformations (MedGen UID: 815750).
The TUBGCP4 gene is associated with autosomal recessive microcephaly with chorioretinopathy (MedGen UID: 902924).
The TUBGCP6 gene is associated with autosomal recessive microcephaly and chorioretinopathy (MedGen UID: 480111).
The TUFM gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 4 (COXPD4) (MedGen UID: 610678).
The TUSC3 gene is associated with autosomal recessive TUSC3-CDG (MedGen UID: 370847).
The TWIST1 gene is associated with autosomal dominant Saethre-Chotzen syndrome (MedGen UID: 64221) and isolated craniosynostosis (MedGen UID: 1646646).
The TWNK gene (formerly known as C10orf2) is associated with a spectrum of mitochondrial disorders including autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 (PEOA3) (MedGen UID: 373087), autosomal recessive Perrault syndrome 5 (PRLTS5) (MedGen UID: 863744), and autosomal recessive mitochondrial DNA depletion syndrome 7 (MTDPS7) (MedGen UID: 338613).
The TXN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 26626369).
The TYMP gene is associated with an autosomal recessive mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a mitochondrial DNA depletion syndrome (MedGen UID: 1631838).
The TYROBP gene is associated with autosomal recessive Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) (MedGen UID: 387795).
The UBA5 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934667). Additionally, the UBA5 gene has preliminary evidence supporting a correlation with autosomal recessive spinocerebellar ataxia 24 (SCAR24) (MedGen UID: 934666).
The UBE2A is associated with the Nascimento type of X-linked syndromic intellectual disability (MedGen UID: 477095).
The UBE3A gene is associated with autosomal dominant Angelman syndrome (MedGen UID: 58144). Gains containing UBE3A are associated with autosomal dominant dup15q syndrome (PMID: 11803514, 9741464, 9399882). Parent-of-origin inheritance impacts the manifestation of UBE3A-related conditions.
The UBE3B gene is associated with autosomal recessive Kaufman oculocerebrofacial syndrome (MedGen UID: 343403).
The UBQLN2 gene is associated with X-linked amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (ALS15) (MedGen UID: 477090).
The UBR1 gene is associated with autosomal recessive Johanson-Blizzard syndrome (MedGen UID: 59798).
The UCHL1 gene is associated with autosomal dominant and autosomal recessive hereditary spastic paraplegia 79 (SPG79) (MedGen UID: 815995) and . Additionally, the UCHL1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease 5 (PARK5) (MedGen UID: 462249).
The UCP2 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant familial hyperinsulinism (MedGen UID: 928751).
The UCP3 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with severe early-onset obesity (PMID: 9769326, 21544083).
The UFM1 gene is associated with autosomal recessive hypomyelinating leukodystrophy-14 (HDL14) (MedGen UID: 1635255).
The UGT1A1 gene is associated with autosomal recessive hyperbilirubinemia including the clinical subtypes Gilbert syndrome (GS) (MedGen UID: 4891), Crigler-Najjar syndrome type I (CN I) (MedGen UID: 41346), Crigler-Najjar syndrome type II (CN II) (MedGen UID: 419718), and transient familial neonatal hyperbilirubinemia (PMID: 26467199). The patientās clinical subtype is dependent upon the patientās clinical presentation and laboratory results in correlation with variants identified in the UGT1A1 gene (see Variant Details).
The UMOD gene is associated with autosomal dominant medullary cystic kidney disease type 2 (MCKD2), and tubulointerstitial kidney disease (ADTKD) (MedGen UID: 468440). Additionally, the UMOD gene has preliminary evidence supporting an association with autosomal dominant glomerulocystic kidney disease with hyperuricemia and isosthenuria (MedGen UID: 372162).
The UMPS gene is associated with autosomal recessive orotic aciduria (MedGen UID: 78642). Mild elevations of orotic acid have been reported in clinically asymptomatic heterozygous carriers (PMID: 28205048).
The UNC13D gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 3 (FHL3) (MedGen UID: 332383).
The UPB1 gene is associated with autosomal recessive beta-ureidopropionase deficiency (MedGen UID: 226944).
The UQCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex III deficiency (PMID: 24385928).
The UQCC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex III deficiency nuclear type 9 (MC3DN9) (MedGen UID: 863690).
The UQCRB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex III deficiency nuclear type 3 (MC3DN3) (MedGen UID:767520).
The UQCRC2 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 5 (MC3DN5) (MedGen UID: 767522).
The UQCRQ gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex III deficiency nuclear type 4 (MC3DN4) (MedGen UID: 767521).
The UROD gene is associated with autosomal dominant porphyria cutanea tarda (PCT) (MedGen UID: 357391) and autosomal recessive hepatoerythropoietic porphyria (HEP) (MedGen UID: 57940).
The UROS gene is associated with autosomal recessive congenital erythropoietic porphyria (MedGen UID: 102408).
The USP53 gene is associated with autosomal recessive progressive familial intrahepatic cholestasis with or without hearing loss (Medgen UID: 988183). In addition, the USP53 gene has preliminary evidence supporting a correlation with epilepsy (PMID: 29649218) and Cantu syndrome (PMID: 22310962).
The USP7 gene is associated with an autosomal dominant neurodevelopmental condition involving neurological and behavioral anomalies (PMID: 30679821).
The UTP4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive North American Indian childhood cirrhosis (NAIC) (PMID: 19732766, 12417987, 10820129).
The VAC14 gene is associated with a spectrum of autosomal recessive skeletal and neurodegenerative conditions including Yunis Varon syndrome (YVS) (PMID: 28635952) and childhood-onset striatonigral degeneration (SNDC) (MedGen UID: 934710).
The VAMP1 gene is associated with autosomal dominant spastic ataxia 1 (SPAX1) (MedGen UID: 409988) and autosomal recessive congenital myasthenic syndrome 25 (CMS25) (MedGen UID: 1683288).
The VAPB gene is associated with autosomal dominant amyotrophic lateral sclerosis 8 (ALS8) (MedGen UID: 325237), also known as late-onset spinal muscular atrophy, Finkel type (SMAFK) (MedGen UID: 357133).
The VARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 20 (COXPD20). (MedGen UID: 863097).
The VCAN gene is associated with autosomal dominant Wagner syndrome (MedGen UID: 452438) and retinitis pigmentosa (RP) (PMID: 26720455). Additionally, the VCAN gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 27058611) and early tooth loss (PMID: 30740127).
The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) (MedGen UID: 1641069), frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) (MedGen UID: 462753), and Charcot-Marie-Tooth disease type 2Y (CMT2Y) (MedGen UID: 898987).
The VDR gene is associated with autosomal recessive vitamin D-dependent rickets type 2A (VDDR2A) (MedGen UID: 90989). Additionally, the VDR gene has preliminary evidence supporting a correlation with autosomal dominant rickets (PMID: 21812032).
The VIPAS39 gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2) (MedGen UID: 462022).
The VMA21 gene is associated with X-linked myopathy with excessive autophagy (MEAX) (MedGen UID: 374264) and congenital disorder of glycosylation (CDG) with autophagic liver disease (PMID: 32145091).
The VPS11 gene is associated with autosomal recessive hypomyelinating leukodystrophy-12 (HDL12) (MedGen UID: 852226).
The VPS13A gene is associated with autosomal recessive choreoacanthocytosis (CHAC) (MedGen UID: 98277).
The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).
The VPS13D gene is associated with an autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, also known as spinocerebellar ataxia 4 (SCAR4) (MedGen UID: 335442).
The VPS33A gene is associated with autosomal recessive mucoploysaccharidosis-plus syndrome (MPSPS) (MedGen UID: 934594).
The VPS33B gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) (MedGen UID: 347219).
The VPS35 gene is associated with autosomal dominant Parkinson disease 17 (PARK17) (MedGen UID: 481763). Additionally, the VPS35 gene has preliminary evidence supporting a correlation with autosomal recessive intellectual disability (PMID: 28397838).
The VPS37A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 53 (SPG53) (MedGen UID: 761340).
The WARS2 gene is associated with an autosomal recessive leukoencephalopathy (MedGen UID: 1619876).
The WASHC5 gene (formerly known as KIAA0196) is associated with autosomal dominant hereditary spastic paraplegia 8 (SPG8) (MedGen UID: 400359) and autosomal recessive cranio-cerebello-cardiac (3C) syndrome, also known as Ritscher-Schinzel syndrome (MedGen UID: 1634646).
The WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).
The WDR19 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (ATD) (MedGen UID: 482228), nephronophthisis (NPHP) (OMIM ID: 614377), Senior-Loken syndrome (SLS) (MedGen UID: 905171), and nonsyndromic retinitis pigmentosa (PMID: 23683095).
The WDR34 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 11 (MedGen UID: 816530). Additionally, the WDR34 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (also known as rod-cone dystrophy, or RCD) (PMID: 33124039).
The WDR35 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) with or without polydactyly (MedGen UID: 481422).
The WDR4 gene is associated with autosomal recessive microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) (MedGen UID: 1676229).
The WDR45 gene is associated with X-linked dominant beta-propeller protein-associated neurodegeneration (BPAN) (MedGen UID: 763887).
The WDR60 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 8 (MedGen UID: 816021).
The WDR62 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 346929). Additionally, the WDR62 gene has preliminary evidence supporting a correlation with autosomal dominant primary ovarian insufficiency (PMID: 30102701).
The WDR73 gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1634188).
The WDR83OS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypercholanemia with intractable itching, short stature, and intellectual disability (PMID: 30250217).
The WFS1 gene is associated with autosomal recessive Wolfram syndrome (MedGen UID: 1641635) and autosomal dominant Wolfram-like syndrome (MedGen UID: 481988) and nonsyndromic low-frequency sensorineural deafness (MedGen UID: 331419). Additionally, the WFS1 gene has preliminary evidence supporting a correlation with cerebellar ataxia (PMID: 25133958) and autosomal dominant congenital cataracts (MedGen UID: 811742).
The WHSC1 gene (also known as the NSD2 gene) is associated with autosomal dominant Wolf-Hirschhorn-like syndrome (MedGen UID: 408255). Additionally, the WHSC1 gene has preliminary evidence supporting a correlation with autosomal dominant autism (PMID: 28191890, 27824329, 30564305).
The WISP3 gene is associated with autosomal recessive progressive pseudorheumatoid dysplasia (PPRD) (MedGen UID: 96581).
The WNT1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 815174) and autosomal dominant osteoporosis (PMID: 23656646, 32369212).
The WNT10B gene is associated with autosomal recessive split hand/foot malformation type 6 (SHFM6) (MedGen UID: 440845). Additionally, the WNT10B gene has preliminary evidence supporting a correlation with autosomal dominant tooth agenesis (MedGen UID: 934697).
The WNT3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with tetra-amelia syndrome (MedGen UID: 860705).
The WNT3A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant osteoporosis (PMID: 22789636) and an autosomal recessive skeletal dysplasia with risk for prenatal fractures (PMID: 29620724).
The WNT5A gene is associated with autosomal dominant Robinow syndrome (ADRS) (MedGen UID: 1641736).
The WNT7A gene is associated with a range of autosomal recessive skeletal dysplasias, including Al-Awadi/Raas-Rothschild syndrome (MedGen UID: 336388), Fuhrmann syndrome (MedGen UID: 346429), and Santos syndrome (PMID: 28855715).
The WWOX gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863956) and spinocerebellar ataxia 12 (SCAR12) (MedGen UID: 482082). Additionally, the WWOX gene has preliminary evidence supporting a correlation with disorders of sex development (PMID: 28130116, 22071891).
The XDH gene is associated with autosomal recessive xanthinuria type I (MedGen UID: 82771).
The XK gene is associated with X-linked recessive McLeod neuroacanthocytosis syndrome (MedGen UID: 140765).
The XPNPEP3 gene is associated with autosomal recessive nephronophthisis-like nephropathy 1 (NPHPL1) (MedGen UID: 461769).
The XPR1 gene is associated with autosomal dominant primary basal ganglia calcification 6 (BGC6) (MedGen UID: 901404).
The XRCC4 gene is associated with autosomal recessive short stature, microcephaly, and endocrine dysfunction (SSMED) (MedGen UID: 895448).
The XYLT1 gene is associated with autosomal recessive Desbuquois dysplasia type 2 (MedGen UID: 862731). Additionally, the XYLT1 gene has preliminary evidence supporting a correlation with autosomal dominant acute aortic dissection (PMID: 30056620).
The XYLT2 gene is associated with autosomal recessive spondyloocular syndrome (MedGen UID: 900371).
The YARS gene is associated with dominant intermediate Charcot-Marie-Tooth disease type C (CMTDIC) (MedGen UID: 334023) and autosomal recessive YARS-related multi-systemic syndrome (PMID: 30304524).
The YARS2 gene is associated with autosomal recessive myopathy, lactic acidosis, and sideroblastic anemia (MLASA) (MedGen UID: 462152).
The YME1L1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondriopathy with optic nerve atrophy (PMID: 27495975).
The YWHAG gene is associated with a spectrum of autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1621755).
The ZBTB18 gene is associated with autosomal dominant ZBTB18-related intellectual disability syndrome (MedGen UID: 814514).
The ZC4H2 gene is associated with X-linked Wieacker-Wolff syndrome (WRWF) (MedGen UID: 163227).
The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067).
The ZFP57 gene is associated with autosomal recessive transient neonatal diabetes mellitus 1 (TNDM1) (MedGen UID 371317).
The ZFR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia (PMID: 24482476).
The ZFYVE26 gene is associated with autosomal recessive hereditary spastic paraplegia 15 (SPG15) (MedGen UID: 341387).
The ZIC1 gene is associated with autosomal dominant structural brain anomalies with impaired intellectual development and craniosynostosis (MedGen UID: 1684861).
The ZIC2 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 355304).
The ZIC4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Dandy-Walker malformation (PMID: 15338008).
The ZMPSTE24 gene is associated with autosomal recessive restrictive dermopathy (RD) (MedGen UID: 98356) and mandibuloacral dysplasia with type B lipodystrophy (MADB) (MedGen UID: 332940).
The ZNF143 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive intracellular cobalamin deficiency (PMID: 27349184) and autosomal dominant endothelial corneal dystrophy (PMID: 31390831).
The ZNF335 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 767413).
The ZNF423 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 761313).
The ZNF687 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Paget disease of bone (PDB) (MedGen UID: 879955; PMID: 26849110).
The ZSWIM6 gene is associated with autosomal dominant acromelic frontonasal dysostosis (AFND) (MedGen UID: 350933) and a neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (MedGen UID: 1647077).
