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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 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 ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647) and dilated cardiomyopathy (DCM) (MedGen UID: 325268). Additionally, the ABCC9 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24439875), atrial fibrillation (MedGen UID: 334469), and autosomal recessive intellectual disability and myopathy syndrome (PMID: 31575858).
The ABCD1 gene is associated with X-linked adrenoleukodystrophy (X-ALD) (MedGen UID: 57667).
The ABCD4 gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin J (cblJ) deficiency (PMID: 22922874).
The ABHD5 gene is associated with autosomal recessive Chanarin-Dorfman syndrome (CDS) (MedGen UID: 82780).
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 ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).
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 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 ACTA1 gene is associated with a spectrum of autosomal dominant and recessive congenital myopathies including nemaline myopathy 3 (NEM3) (MedGen UID: 777997) and congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM# 102610).
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 ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031), left ventricular noncompaction (LVNC) (MedGen UID: 349005) and distal arthrogryposis (MedGen UID: 120512).
The ACTG1 gene is associated with autosomal dominant deafness (MedGen UID: 346852) and Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 482865).
The ACTN2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), autosomal dominant congenital myopathy with multiple structured cores (MedGen UID: 1684705) and autosomal dominant left ventricular noncompaction (LVNC) (PMID: 33500567, 25173926, 34802252, 33859969, 33049752, 31568572). Additionally, the ACTN2 gene has preliminary evidence supporting a correlation with distal myopathy (PMID: 30900782), and autosomal dominant dilated cardiomyopathy (DCM) (PMID: 31983221).
The ACY1 gene is associated with autosomal recessive aminoacylase-1 deficiency (MedGen UID: 324393).
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 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 ADGRB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia (PMID: 28891236).
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 ADSSL1 gene is associated with autosomal recessive distal myopathy 5 (MPD5) (MedGen UID: 934721).
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 AGRN gene is associated with autosomal recessive congenital myasthenic syndrome 8 (CMS8) (MedGen UID: 815069). In addition, the AGRN gene has preliminary evidence supporting a correlation with autosomal recessive fetal akinesia deformation sequence (FADS) (PMID: 31730230).
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 AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175) and autosomal dominant microcephaly (PMID: 32827175, 21800092).
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 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).
ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).
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).
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 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 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 ANG gene is associated with autosomal dominant amyotrophic lateral sclerosis type 9 (ALS9) (MedGen UID: 395629).
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 ANKRD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (PMID: 19608031).
The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317) and Cornelia de Lange Syndrome (CdLS) (PMID: 25652421, 25125236).
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 ANXA11 gene is associated with autosomal dominant amyotrophic lateral sclerosis 23 (ALS23) (MedGen UID: 1645924).
The AP1S2 gene is associated with X-linked recessive Pettigrew syndrome (MedGen UID: 162924).
The AP2M1 gene is associated with autosomal dominant intellectual disability and epilepsy (MedGen UID: 1684702).
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 APOA1 gene is associated with autosomal recessive apolipoprotein A-I (apo A-I) deficiency (MedGen UID: 945224) and autosomal dominant systemic amyloidosis (MedGen UID: 82799).
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 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 ARHGEF10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant slowed nerve conduction velocity (MedGen UID: 330829) and autosomal dominant Charcot-Marie-Tooth disease (PMID: 25025039, 24627108, 34169998).
The ARHGEF15 gene is associated with autosomal dominant cerebral small vessel disease with osteoporosis (PMID: 36929019). Additionally, the ARHGEF15 gene has preliminary evidence supporting a correlation with autosomal dominant developmental and epileptic encephalopathy (PMID: 23647072).
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 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 ARSI gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary spastic paraplegia (PMID: 24482476).
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 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 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 ATL3 gene is associated with autosomal dominant hereditary sensory neuropathy type 1F (HSN1F) (MedGen UID: 816524).
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 ATP1A1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) (MedGen UID:1648475) and ATP1A1-related neurodevelopmental disorder (MedGen UID:1675904).
The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine type 2 (FHM2) (MedGen UID: 355962), alternating hemiplegia of childhood type 1 (AHC1) (MedGen UID: 762361), developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 27864847), and autosomal recessive fetal akinesia deformation sequence (PMID: 30690204). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant hypokalemic periodic paralysis (PMID: 30423015).
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 ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).
The ATP2B4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia (PMID: 25119969).
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 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 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 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 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 B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (MedGen UID: 373138).
The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).
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 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 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 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 BIN1 gene is associated with autosomal dominant and recessive centronuclear myopathy (MedGen UID: 98049).
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 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 BRAF gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321), and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).
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 BRD4 gene is associated with autosomal dominant Cornelia de Lange and Cornelia de Lange-like syndrome (PMID: 29379197, 11997514).
The BRWD3 gene is associated with X-linked intellectual disability (MedGen UID: 410164).
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 BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).
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).
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 C9orf72 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) (MedGen UID: 854771).
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 CACNA1B gene is associated with autosomal recessive neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (MedGen UID: 943635).
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 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 CACNA1H gene is associated with autosomal dominant familial hyperaldosteronism (MedGen UID: 934723). Additionally, the CACNA1H gene has preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy syndromes (PMID: 12891677, 15048902, 17696120).
The CACNA1S gene is associated with autosomal dominant hypokalemic periodic paralysis 1 (HOKPP1) (MedGen UID: 811387), congenital myopathy (PMID: 28012042), and malignant hyperthermia susceptibility 5 (MHS5) (MedGen UID: 356151). It is also associated with autosomal recessive congenital myopathy (PMID: 28012042).
The CACNA2D2 gene is associated with autosomal recessive cerebellar atrophy with seizures and variable developmental delay (CASVDD) (MedGen UID: 944061).
The CACNB4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (MedGen UID: 413424) and episodic ataxia, type 5 (EA5) (MedGen UID: 356142).
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 CALR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462616).
The CAMK2B gene is associated with autosomal dominant intellectual disability (MedGen UID: 1614787).
The CAMTA1 gene is associated with autosomal dominant non-progressive ataxia with intellectual disability (CANPMR) (MedGen UID: 766575).
The CAPN1 gene is associated with autosomal recessive hereditary spastic paraplegia 76 (SPG76) (MedGen UID: 934767).
The CAPN3 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391) and autosomal dominant limb-girdle muscular dystrophy type 4 (LGMDD4) (MedGen UID: 1648316).
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 CASQ1 gene is associated with autosomal dominant vacuolar myopathy with CASQ1 aggregates (VMCQA) (MedGen UID: 864061). Additionally, the CASQ1 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 27832566).
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 CAV3 gene is associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 482073), and autosomal dominant and recessive limb-girdle muscular dystrophy type 1C (LGMD1C) (MedGen UID: 371358) and rippling muscle disease (MedGen UID: 342944), collectively known as the caveolinopathies (MedGen UID: 433151). Additionally, the CAV3 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).
The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153), which is one of the RASopathies (MedGen UID: 1792298). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).
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 CCDC78 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).
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 CCER2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant moyamoya disease (PMID: 27717682).
The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).
The CCND2 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863179) and an autosomal dominant condition involving microcephaly, short stature, and developmental delay (PMID: 34087052).
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 CDC42 gene is associated with autosomal dominant Takenouchi-Kosaki syndrome (MedGen UID: 906646).
The CDK13 gene is associated with autosomal dominant congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (MedGen UID: 1385307).
The CDK5 gene is associated with autosomal recessive lissencephaly with cerebellar hypoplasia (MedGen UID: 895680).
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 CDON gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 481845) and autosomal recessive ocular coloboma (PMID: 32729136).
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 CERS1 is associated with autosomal recessive progressive myoclonic epilepsy 8 (EPM8) (MedGen UID: 864056)
The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).
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 CHD2 gene is associated with autosomal dominant childhood-onset epileptic encephalopathy (MedGen UID: 815608).
The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).
The CHD8 gene is associated with an autosomal dominant syndrome involving overgrowth, intellectual disability, and susceptibility to autism (MedGen UID: 767287).
The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).
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 CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182).
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 CHRNA2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 332082).
The CHRNA4 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 324932).
The CHRNB1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 908185, 903254, 373251).
The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).
The CHRND gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UID: 898378, 903088, 909404) and autosomal recessive lethal multiple pterygium syndrome (LMPS) (MedGen UID: 381473).
The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 904424, 908188).
The CIT gene is associated with autosomal recessive primary microcephaly (MedGen UID: 934690).
The CIZ1 gene is associated with autosomal dominant dystonia 23 (DYT23) (PMID: 22447717).
The CLCN1 gene is associated with autosomal dominant and recessive myotonia congenita (MedGen UID: 422446, 155852).
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 CLCN6 gene is associated with autosomal dominant CLCN6-related neurodevelopmental syndrome (PMID: 33217309). In addition, the CLCN6 gene has preliminary evidence supporting a correlation with autosomal dominant benign partial epilepsy (PMID: 25794116).
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 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 CLPP gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 814744).
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 CNOT3 gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 1684848).
The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).
The CNTN2 gene is associated with autosomal recessive myoclonic epilepsy (MedGen UID: 815704).
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 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).
COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID 462226).
The COG7 gene is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 419311).
The COL12A1 gene is associated with autosomal dominant Bethlem myopathy 2 (BTHLM2) (MedGen UID: 907426) and autosomal recessive Ullrich congenital muscular dystrophy 2 (UCMD2) (MedGen UID: 899150). The COL12A1 gene is also associated with autosomal dominant and recessive myopathic Ehlers-Danlos syndrome (PMID: 28306229). Additionally, the COL12A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypermobile Ehlers-Danlos syndrome (PMID: 32629534, 31273343).
The COL13A1 gene is associated with autosomal recessive congenital myasthenic syndrome (CMS19) (MedGen UID 897962).
The COL18A1 gene is associated with autosomal recessive Knobloch syndrome (MedGen UID: 1642123).
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 COL6A1 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).
The COL6A2 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). Other COL6A2-related disorders have also been reported (OMIM: 120240).
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 COLGALT1 gene is associated with autosomal recessive cerebral small vessel disease (MedGen UID: 1677948).
The COLQ gene is associated with autosomal recessive congenital myasthenic syndrome 5 (CMS5) (MedGen UID: 400481).
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 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 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 CPA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant familial temporal lobe epilepsy 5 (PMID: 21922598, 25875328, 26648591, 23105115) and autosomal recessive familial febrile seizures 11 (PMID: 21922598, 23105115).
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 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 CRADD gene is associated with autosomal recessive “thin” lissencephaly (TLIS) and intellectual disability (MedGen UID: 482674).
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 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 CRYAB gene is associated with autosomal dominant and recessive cataracts (MedGen UID: 814707). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563).
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 CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).
The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). Additionally, the CSRP3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 334498) and autosomal recessive hypertrophic cardiomyopathy (PMID: 30012424).
The CST3 gene is associated with autosomal dominant hereditary cerebral amyloid angiopathy (HCAA) (MedGen UID: 279656).
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 CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912).
The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468).
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 CUL3 gene is associated with autosomal dominant pseudohypoaldosteronism type 2E (PHA2E) (MedGen UID:Ā 483336) and an autosomal dominant neurodevelopmental condition (PMID: 33130828).
The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).
The CYB5R3 gene is associated with autosomal recessive methemoglobinemia due to NADH-cytochrome b5 reductase deficiency (MedGen UID: 75661).
The CYFIP2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1634676).
The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).
The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).
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 DCHS1 gene is associated with autosomal dominant mitral valve prolapse (MedGen UID: 335856) and autosomal recessive Van Maldergem syndrome (MedGen UID: 1644627).
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 DDX3X gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 897961).
The DEAF1 gene is associated with autosomal dominant and autosomal recessive neurodevelopmental disorders (MedGen UID: 862851, 934650).
The DEGS1 gene is associated with autosomal recessive hypomyelinating leukodystrophy (HLD) (MedGen UID: 941380).
The DENND5A gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 934602).
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 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 DIAPH1 gene is associated with autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995) and autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797).
The DISP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive holoprosencephaly (HPE) (PMID: 28640243, 19184110, 26748417).
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 DLL4 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 908556).
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 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 DNAJB2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2) (MedGen UID: 968941), also known as distal spinal muscular atrophy 5 (DSMA5) (MedGen UID: 766903) or distal hereditary motor neuropathy (PMID: 22522442).
The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 1648441).
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 DNM1 gene is associated with autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 894942, PMID: 34172529).
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 DOK7 gene is associated with autosomal recessive congenital myasthenic syndrome 10 (CMS10) (MedGen UID: 376880) and fetal akinesia deformation sequence 3 (FADS3) (MedGen UID: 941313).
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 DRD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia (MedGen UID: 331778).
The DRP2 gene is associated with X-linked Charcot-Marie-Tooth disease (PMID: 26227883).
The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237). Additionally, the DSC2 gene has preliminary evidence supporting a correlation with autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).
The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543). Additionally the DSG2 gene has preliminary evidence supporting a correlation with dilated cardiomyopathy (DCM) (MedGen UID: 414552) and autosomal recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 28818065, 23381804).
The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and autosomal dominant dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 862830). The DSP gene is also associated with autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124) and autosomal recessive lethal acantholytic epidermolysis bullosa (LAEB) (MedGen UID:Ā 400622).
The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800). Detection of variants in the neuronal isoform dystonin-a2 transcript (NM_001144769) is not guaranteed with the current assay (PMID: 32042917).
The DSTYK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 23 (SPG23) (MedGen UID: 167094) and autosomal dominant congenital anomalies of kidney and urinary tract (MedGen UID: 322763).
The DTNA gene is associated with autosomal dominant muscular dystrophy (PMID: 36799992). Additionally, the DTNA gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005).
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 DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).
The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128), limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), and distal myopathy with anterior tibial onset (DMAT) (MedGen UID: 335706), collectively known as the dysferlinopathies (MedGen UID: 419874).
The EARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 12 (COXPD12) (MedGen UID: 766993).
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 EEF1A2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 897930). Additionally, the EEF1A2 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy with dilated cardiomyopathy (PMID: 28911200).
The EEF2 gene is associated with autosomal dominant spinocerebellar ataxia 26 (SCA26) (MedGen UID: 373077) and an autosomal dominant neurodevelopmental disorder (PMID: 33355653).
The EFHC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant juvenile myoclonic epilepsy (JME) (MedGen UID: 342587) and juvenile absence epilepsy (JAE) (MedGen UID: 4989).
The EFTUD2 gene is associated with autosomal dominant mandibulofacial dysostosis-microcephaly syndrome (MFDGA) (MedGen UID: 355264).
The EGR2 gene is associated with a spectrum of hereditary neuropathies including autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E) (MedGen UID: 1648303).
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 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 ELP1 gene (formerly known as IKBKAP) is associated with autosomal recessive familial dysautonomia (FD), also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678). Additionally, the ELP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to medulloblastoma (PMID: 32296180).
The EMC1 gene is associated with autosomal dominant and autosomal recessive cerebellar atrophy, visual impairment, and psychomotor retardation (MedGen UID: 905041). Additionally, the EMC1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 23105016).
The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284).
The EML1 gene is associated with autosomal recessive subcortical band heterotopia (MedGen UID: 924885).
The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (MedGen UID: 442873).
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 ERBB4 gene is associated with autosomal dominant amyotrophic lateral sclerosis 19 (ALS19) (MedGen UID: 811607). Additionally, the ERBB4 gene has preliminary evidence supporting a correlation with chronic kidney disease (PMID: 25893603) and isolated hypogonadotropic hypogonadism (PMID: 30098700).
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 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 ERMARD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant periventricular nodular heterotopia (MedGen UID: 816202).
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 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 EYA4 gene is associated with autosomal dominant deafness with or without dilated cardiomyopathy (MedGen UID: 321966). Additional EYA4-related conditions have been reported (OMIM: 603550).
The EZH2 gene is associated with autosomal dominant Weaver syndrome (MedGen UID: 120511).
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 FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).
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 FASN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).
The FASTKD2 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).
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 FBLN5 gene is associated with autosomal dominant hereditary neuropathy with or without age-related macular degeneration (HNARMD) (MedGen UID: 904080) and autosomal recessive cutis laxa, type 1A (ARCL1A) (MedGen UID: 472614).
The FBXL4 gene is associated with autosomal recessive mitochondrial DNA depletion syndrome 13 (MTDPS13), encephalomyopathic type (MedGen UID: 815922).
The FBXO11 gene is associated with an autosomal dominant FBXO11-related neurodevelopmental disorder (MedGen UID: 1648498)
The FBXO38 gene is associated with autosomal dominant distal hereditary motor neuropathy 2D (HMN2D) (MedGen UID: 854832).
The FBXO7 gene is associated with autosomal recessive Parkinson disease 15 (PARK15) (MedGen UID: 337969).
The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484).
The FGD1 gene is associated with X-linked recessive Aarskog-Scott syndrome (MedGen UID: 61234). Additionally, the FGD1 gene has preliminary evidence supporting a correlation with X-linked intellectual disability (PMID: 11940089).
The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487).
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 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 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 FHL1 gene is associated with a spectrum of X-linked myopathies including myopathy with postural muscle atrophy (XMPMA), also known as Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathy (RBM) (MedGen UIDs: 904593, 906731) and scapuloperoneal myopathy (SPM) (MedGen UID: 395530). The FHL1 gene is also associated with X-linked hypertrophic cardiomyopathy (PMID: 24114807).
The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 28416588, 17416452).
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 FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).
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 FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), dilated cardiomyopathy (PMID: 25633252, 27908349), hypertrophic cardiomyopathy (PMID: 25351925, 28356264), and restrictive cardiomyopathy (PMID: 26666891).
The FLRT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive peripheral neuropathy (PMID: 24482476).
The FLVCR2 gene is associated with autosomal recessive proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) (MedGen UID: 384026).
The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).
The FOXA2 gene is associated with autosomal dominant syndromic hypopituitarism with midline anomalies (PMID: 31294511).
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 FOXH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214) and autosomal dominant congenital heart disease, including tetralogy of Fallot and heterotaxy (PMID: 18538293, 32003456).
The FOXP1 gene is associated with autosomal dominant intellectual disability with language impairment and with or without autistic features (IDLIAF) (MedGen UID 462273).
The FOXRED1 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) (MedGen UID: 374101).
The FRRS1L gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934737).
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 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 FUS gene is associated with autosomal dominant amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) (MedGen UID: 374989). Additionally, the FUS gene has preliminary evidence supporting an association with autosomal dominant hereditary essential tremor 4 (ETM4) (MedGen UID: 761337).
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 GABRA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (PMID: 19429026, 21930603).
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 GABRD gene is associated with an autosomal dominant neurodevelopmental disorder (PMID: 34633442, 15115768, 16023832).
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 GAL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with familial temporal lobe epilepsy 8 (ETL8) (PMID: 25691535).
The GALC gene is associated with autosomal recessive Krabbe disease (MedGen UID: 44131).
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 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 GAS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (PMID 20583177, 21842183).
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 GATAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy (DCM) (MedGen UID: 766323).
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 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 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 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 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 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 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 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 GNB4 gene is associated with dominant intermediate Charcot-Marie-Tooth disease type F (CMTDIF) (MedGen UID: 767568).
The GNE gene is associated with autosomal dominant sialuria (MedGen UID: 137980) and autosomal recessive GNE-related myopathy (MedGen UID: 381298).
The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).
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 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 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 GPSM2 gene is associated with autosomal recessive Chudley-McCullough syndrome (CMCS) (MedGen UID: 347699).
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 GRIN2A gene is associated with a spectrum of autosomal dominant developmental and epileptic encephalopathy (MedGen UID: 812732).
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 GSN gene is associated with autosomal dominant amyloidosis, Finnish type (MedGen UID: 301243).
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 GUCY1A1 gene (formerly known as GUCY1A3) is associated with autosomal recessive Moyamoya disease type 6 (MYMY6) (MedGen UID: 816733). Additionally, the GUCY1A1 gene has preliminary evidence supporting a correlation with myocardial infarction (PMID: 24213632).
The GUF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934704) and severe microcephaly (PMID: 29302074).
The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889).
The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).
The HACD1 gene is associated with autosomal recessive congenital myopathy (PMID: 23933735).
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 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 HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517) and sinus node dysfunction or bradycardia (MedGen UID: 320273). Some individuals with LVNC and/or arrhythmia are also reported to have aortic disease (PMID: 31731876). Additionally, the HCN4 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 22840528).
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 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 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 HINT1 gene is associated with autosomal recessive neuromyotonia and axonal neuropathy (NMAN) (MedGen UID: 449355).
The HIVEP2 gene is associated with autosomal dominant intellectual disability (MedGen UID: 934738).
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 HNRNPA2B1 gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease, with or without frontotemporal dementia 2 (IBMPFD2) (MedGen UID: 815798).
The HNRNPDL gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3) (MedGen UID: 322993).
The HNRNPK gene is associated with autosomal dominant Au-Kline syndrome (MedGen UID: 900671).
The HNRNPU gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1392637).
The HPCA gene is associated with autosomal recessive dystonia 2 (DYT2) (MedGen UID: 346511).
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 HSPB1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) (MedGen UID: 335784), autosomal dominant distal hereditary motor neuropathy 2B (HMN2B) (MedGen UID: 382017), and autosomal recessive Charcot-Marie-Tooth disease (PMID: 33943041)
The HSPB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal hereditary motor neuropathy 2C (HMN2C) (MedGen UID: 461969).
The HSPB8 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) (MedGen UID: 324826), also known as distal hereditary motor neuropathy 2A (HMN2A) (MedGen UID: 322471).
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 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 HUWE1 gene is associated with X-linked syndromic Turner type intellectual disability (IDXST) (MedGen UID: 394425).
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 IDH2 gene is associated with autosomal dominant D-2-hydroxyglutaric aciduria type 2 (MedGen UID: 462259).
The IDH3A gene is associated with autosomal recessive inherited retinal disease (IRD) with or without macular pseudocoloboma (PMID: 30058936, 31012789, 28412069). Additionally, the IDH3A gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (PMID: 28058510).
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 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 IGHMBP2 gene is associated with a spectrum of autosomal recessive neuropathies including Charcot-Marie-Tooth disease type 2S (CMT2S) (MedGen UID: 863786), also referred to as distal hereditary motor neuropathy 6 (HMN6) or distal spinal muscular atrophy 1 (DSMA1) (MedGen UID: 388083).
The IL1RAPL1 gene is associated with X-linked recessive intellectual disability (MedGen UID: 208680).
The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580).
The INF2 gene is associated with autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID: 482475) and focal segmental glomerulosclerosis (FSGS5) (MedGen UID: 413315).
The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502) and retinitis pigmentosa (PMID: 29555955, 28559085, 29186038).
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 ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).
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 JAM3 gene is associated with autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) (MedGen UID: 462350).
The JMJD1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Rett syndrome (PMID: 26181491), intellectual disability and autism spectrum disorder (PMID: 26181491, 28554332).
The JPH2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614). Additionally, the JPH2 gene has preliminary evidence supporting a correlation with dilated cardiomyopathy (DCM) (MedGen UID: 985833).
The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).
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 KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853). In some individuals this gene is flanked by segmental duplications that overlap with KANSL1 exons 1-3 (PMID: 22751096).
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 KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095). Additionally, the KBTBD13 gene has preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (PMID: 28403181).
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 KCNB1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863556).
The KCNC1 gene is associated with autosomal dominant progressive myoclonic epilepsy 7 (EPM7) (MedGen UID: 863857) and developmental and epileptic encephalopathy (PMID: 28145425, 31353855).
The KCNC3 gene is associated with autosomal dominant spinocerebellar ataxia 13 (SCA13) (MedGen UID: 344297).
The KCND2 gene is associated with early-onset global developmental delay and developmental and epileptic encephalopathy (PMID: 34245260, 35510384).
The KCNH1 gene is associated with autosomal dominant Zimmermann-Laband syndrome (ZLS) (MedGen UID: 1639277) and Temple-Baraitser syndrome (TMBTS) (MedGen UID: 395636).
The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293) and short QT syndrome (SQTS) (MedGen UID: 355891). Additionally, the KCNH2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24400717).
The KCNH5 gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 23647072, 24133262).
The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).
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 KCNK18 gene is associated with an autosomal recessive neurodevelopmental disorder (PMID: 37195340). Additionally, the KCNK18 gene has preliminary evidence supporting a correlation with autosomal dominant migraine (MedGen UID: 462258).
The KCNK4 gene is associated with an autosomal dominant neurodevelopmental syndrome (MedGen UID: 941316).
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 KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707), and autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 29383681, 23020937, 2393411).
The KCNQ5 gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 1618560).
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 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 KIF11 gene is associated with autosomal dominant microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLID) (MedGen UID: 320559).
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 KIF1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (PMID: 24694336), neuroblastoma (PMID: 18614535, 18334619, 24469107), and Charcot-Marie-Tooth disease (CMT) (PMID: 30373780).
The KIF1BP gene is associated with autosomal recessive Goldberg-Shprintzen syndrome (MedGen UID: 332131).
The KIF1C gene is associated with autosomal recessive spastic ataxia type 2 (SPAX2) (MedGen UID: 370750).
The KIF2A gene is associated with autosomal dominant cortical malformations (MedGen UID: 815744).
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 KLC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia, optic atrophy and neuropathy (SPOAN) (MedGen UID: 324411).
The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).
The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).
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 KLHL9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal myopathy (MedGen UID: 1647584).
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 KPNA7 gene is associated with autosomal recessive infantile spasms, intractable epilepsy & cerebellar malformation (PMID: 24045845).
The KRAS gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102), Costello syndrome (PMID: 17056636, 17468812), and mosaic RASopathy syndromes including oculoectodermal syndrome (OES), encephaloācranioācutaneous lipomatosis (ECCL), and Schimmelpenningā FeuersteināMims syndrome (SFMS) (PMID: 25808193, 30891959).
The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 237128).
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 LAMA4 gene is associated with dilated cardiomyopathy (MedGen UID: 815265).
The LAMB1 gene is associated with autosomal recessive cortical malformations (MedGen UID: 767571).
The LAMB2 gene is associated with autosomal recessive nephrotic syndrome, type 5 (NPHS5) with or without ocular abnormalities (MedGen UID: 481743), and Pierson syndrome (MedGen UID: 373199). Additionally, the LAMB2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (PMID: 19251977).
The LAMC3 gene is associated with autosomal recessive occipital cortical malformations (MedGen UID: 481505).
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 LARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 815435) and hydrops, lactic acidosis, and sideroblastic anemia (HLASA) (MedGen UID: 934728).
The LAS1L gene is associated with X-linked Wilson-Turner intellectual disability syndrome (MedGen UID: 333393). Additionally, the LAS1L gene has preliminary evidence supporting a correlation with X-linked congenital lethal motor neuron disease (PMID: 24647030).
The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 1648314). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 316944) and left ventricular noncompaction (LVNC) (PMID: 28798025). The LDB3 gene is also associated with autosomal recessive dilated cardiomyopathy (DCM) (PMID:Ā 36253531).
The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688).
The LETM1 gene is associated with autosomal recessive mitochondrial encephalomyopathy (PMID: 36055214).
The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326).
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 LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (MedGen UID: 897675).
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 LITAF gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C (CMT1C) (MedGen UID: 75728).
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 LMNB2 gene is associated with autosomal dominant primary microcephaly (MedGen UID: 1783457) PMID: 33033404) and autosomal recessive progressive myoclonic epilepsy 9 (PME9) (MedGen UID: 901242). Additionally, there is evidence suggesting LMNB2 is associated with autosomal dominant acquired partial lipodystrophy (APL) (MedGen UID: 66352).
The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 863797).
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 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 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 LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719).
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 LRSAM1 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2P (CMT2P) (MedGen UID: 482427).
The LYRM7 gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 8 (MC3DN8) (MedGen UID: 862877).
The LZTR1 gene is associated with autosomal dominant LZTR1-related schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan spectrum disorders (NSDs) (MedGen UID: 902892, MedGen UID: 344290).
The MACF1 gene is associated with autosomal dominant lissencephaly with complex brainstem malformation (MedGen UID: 941245).
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 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 MAP2K2 gene is associated with autosomal dominant cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815337), which is one of the RASopathies (MedGen UID: 1792298).
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 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 MARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) (MedGen UID: 906504) and autosomal recessive interstitial lung and liver disease (ILLD) (MedGen UID: 815981). Additionally, the MARS gene has preliminary evidence supporting a correlation with autosomal recessive nonphotosensitive trichothiodystrophy 9 (MedGen UID: 990738) and apastic paraplegia 70 (MedGen UID: 1008527).
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 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 MATR3 gene is associated with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (MedGen UID: 813851), also known as distal myopathy 2 (MPD2).
The MBD5 gene is associated with autosomal dominant intellectual disability (MedGen UID: 409857). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267).
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 MCM3AP gene is associated with autosomal recessive peripheral neuropathy, with or without impaired intellectual development (PNRIID) (MedGen UID: 921982). Additionally, the MCM3AP gene has preliminary evidence supporting a correlation with autosomal dominant adenomatous polyposis (PMID: 25219767) and hypokalemic periodic paralysis (PMID: 31241196).
The MCOLN1 gene is associated with autosomal recessive mucolipidosis type IV (ML IV) (MedGen UID: 68663).
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 MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924). Additionally, the MED13L gene has preliminary evidence supporting a correlation with heterotaxy (PMID: 27959697, 14638541).
The MED17 gene is associated with autosomal recessive postnatal progressive microcephaly with seizures and brain atrophy (MedGen UID: 462271).
The MED20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive infantile basal ganglia degeneration and brain atrophy (PMID: 25446406) and autosomal dominant congenital heart disease (PMID: 28991257).
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 MEGF10 gene is associated with autosomal recessive early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) (MedGen UID: 482309).
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).
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 MICAL1 gene is associated with autosomal dominant familial temporal lobe epilepsy (ETL1) (MedGen UID: 1643229). Additionally, the MICAL1 gene currently has preliminary evidence supporting a correlation with autosomal dominant Charcot-Marie-Tooth disease (PMID: 26752306).
The MICU1 gene is associated with autosomal recessive myopathy with extrapyramidal signs (MPXPS) (MedGen UID: 816615).
The MID1 gene is associated with X-linked recessive Opitz GBBB syndrome (MedGen UID: 424842).
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 MME gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2T (CMT2T) (MedGen UID: 864072). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant CMT2T (MedGen UID: 860472) and spinocerebellar ataxia 43 (SCA43) (MedGen UID: 934730).
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 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 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 MRPL44 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 16 (COXPD16) (MedGen UID: 815669).
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 MRPS22 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 5 (COXPD5) (MedGen UID: 435972).
The MRPS34 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 32 (COXPD32) (MedGen UID: 1617600).
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 MTFMT gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 15 (MedGen UID: 767096).
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 MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).
The MTMR14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy (MedGen UID: 1645741).
The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947).
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 MUSK gene is associated with autosomal recessive congenital myasthenic syndrome 9 (CMS9) (MedGen UID: 895641) and fetal akinesia deformation sequence 1 (FADS1) (MedGen UID: 220903).
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 MYBPC3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 350526) and dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the MYBPC3 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 28798025).
The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy (PMID: 11053684).
The MYH2 gene is associated with autosomal dominant and recessive proximal myopathy with ophthalmoplegia (MYPOP) (MedGen UID: 381340).
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 MYH6 gene is associated with autosomal dominant atrial septal defects (MedGen UID: 481420). There is also preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484) and dilated cardiomyopathy (DCM) (MedGen UID: 412965) and autosomal recessive congenital heart defects (PMID: 28991257). Additional MYH6-related conditions have been reported (OMIM: 160710).
The MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195), dilated cardiomyopathy (DCM) (MedGen UID: 37831), left ventricular noncompaction (LVNC) (MedGen UID: 349005), and Laing distal myopathy (MPD1) (MedGen UID: 449370). It is also associated with autosomal dominant and recessive myosin storage myopathy (MSMA) (MedGen UID:374868) and autosomal dominant scapuloperoneal myopathy (SPMM) (MedGen UID: 442146).
The MYL2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 331754) and autosomal recessive early-onset MYL2-associated light chain myopathy (PMID: 23365102).
The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806) and autosomal recessive restrictive cardiomyopathy (RCM) (PMID: 12021217).
The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).
The MYO18B gene is associated with autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism (KFS4) (MedGen UID: 894399).
The MYOM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 21256114).
The MYOT gene is associated with a spectrum of autosomal dominant neuromuscular conditions including myofibrillar myopathy 3 (MFM3) (MedGen UID: 811509), formerly known as limb-girdle muscular dystrophy type 1A (LGMD1A), and spheroid body myopathy (MedGen UID: 401082). Additionally, the MYOT gene has preliminary evidence supporting a correlation with autosomal recessive myofibrillar myopathy (PMID: 24928145).
The MYOZ2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462554).
The MYPN gene is associated with autosomal recessive nemaline myopathy 11 (NEM11) (MedGen UID: 1384302). Additionally, the MYPN gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (CMD1KK) (MedGen UID: 811544), hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) (PMID: 18006477, 22286171, 22892539).
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 NAA15 gene is associated with autosomal dominant intellectual disability (MedGen UID: 1616989).
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 NALCN gene is associated with autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delays (CLIFAHDD) (MedGen UID: 907234) and autosomal recessive infantile neuroaxonal dystrophy with facial dysmorphism (MedGen UID: 815784).
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 NDE1 gene is associated with autosomal recessive lissencephaly 4 (LIS4) (MedGen UID: 462811). Additionally, the NDE1 gene has preliminary evidence supporting a correlation with autosomal recessive microhydranencephaly (MHAC) (PMID: 22526350; MedGen UID: 341899).
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 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 NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534). Additionally, the NEB gene has preliminary evidence supporting a correlation with autosomal dominant nemaline myopathy (PMID: 30679003).
The NEBL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 20951326).
The NECAP1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862867).
The NEDD4L gene is associated with autosomal dominant periventricular nodular heterotopia (MedGen UID: 934636). Additionally, the NEDD4L gene has preliminary evidence supporting a correlation with autosomal dominant developmental and epileptic encephalopathy (PMID: 23934111).
The NEFH gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2CC (CMT2CC) (MedGen UID: 934757). Additionally, the NEFH gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (ALS) (MedGen UID: 400169).
The NEFL gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337).
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 KIAA2022 gene (also known as NEXMIF) is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).
The NEXN gene is associated with autosomal recessive dilated cardiomyopathy (PMID: 32870709, 33949776, 32058062). There is also preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617), and left ventricular noncompaction cardiomyopathy (PMID: 28798025, 30471092).
The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089), and Watson syndrome (MedGen UID: 107817).
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 NFIX gene is associated with autosomal dominant Malan syndrome (also known as Sotos syndrome 2) (MedGen UID: 766574) and Marshall-Smith syndrome (MedGen UID: 75551).
The NFU1 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 1 (MMDS1) (MedGen UID: 343044).
The NGF gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 5 (HSAN5) (MedGen UID: 6916). Additionally, the NGF gene has preliminary evidence supporting a correlation with autosomal dominant hereditary sensory and autonomic neuropathy (PMID: 18420729).
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 NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).
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 NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).
The NKX6-2 gene is associated with autosomal recessive spastic ataxia with hypomyelinating leukodystrophy (SPAX8) (MedGen UID: 1382553).
The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).
The NONO gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 902184).
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 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 NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).
The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675).
The NR2F1 gene is associated with autosomal dominant Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (MedGen UID: 816693).
The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028), which is one of the RASopathies (MedGen UID: 1792298).
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 NSUN2 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 370849). Additionally, the NSUN2 gene has preliminary evidence supporting a correlation with autosomal recessive Noonan-like syndrome (PMID: 24102521, 26055038).
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 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 OAT gene is associated with autosomal recessive gyrate atrophy of choroid and retina (GACR) (MedGen UID: 109343).
The OBSCN gene is associated with autosomal recessive rhabdomyolysis (MedGen UID: 1824080).
The OCLN gene is associated with autosomal recessive band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) (MedGen UID: 1639355).
The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145) and Dent disease (MedGen UID: 931198).
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 OPHN1 gene is associated with syndromic X-linked intellectual disability with cerebellar hypoplasia (MedGen UID: 336920).
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 ORAI1 gene is associated with autosomal dominant tubular aggregate myopathy 2 (TAM2) (MedGen UID: 860163) and autosomal recessive ORAI1 deficiency (MedGen UID: 440578).
The OSGEP gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1627611).
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 PACS1 gene is associated with autosomal dominant Schuurs-Hoeijmakers syndrome (MedGen UID: 767257).
The PACS2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1648486).
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 PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).
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 PAX6 gene is associated with autosomal dominant Peters anomaly (MedGen UID: 91031), aniridia (MedGen UID: 576337), and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has preliminary evidence supporting a correlation with autosomal dominant Gillespie syndrome (PMID: 17595013), foveal hypoplasia (MedGen UID: 811934), and keratitis (MedGen UID: 332039). Deletions of PAX6 are part of a contiguous gene deletion syndrome: Wilms tumor, aniridia, genitourinary anomalies and intellectual disability (WAGR) syndrome (MedGen UID: 64512).
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 PCLO gene is associated with autosomal recessive pontocerebellar hypoplasia 3 (PCH3) (MedGen UID: 334225).
The PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121).
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 PDE8B gene is associated with autosomal dominant striatal degeneration type 1 (ADSD1) (MedGen UID: 934775). Additionally, the PDE8B gene has preliminary evidence supporting a correlation with autosomal dominant primary pigmented nodular adrenocortical disease (MedGen UID: 481724).
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 PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061).
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 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 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 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 PHF21A gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 946123).
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 PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD IXb) (MedGen UID: 337918).
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 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 PIK3AP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile spasms (PMID: 25262651).
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 PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205). Additionally, the PKP2 gene has preliminary evidence supporting a correlation with autosomal recessive ARVC (PMID: 17041889), autosomal dominant Brugada syndrome (PMID: 24352520), and autosomal dominant dilated cardiomyopathy (PMID: 20716751).
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 PLCB1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462338).
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 PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 418981), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). Additionally, the c.5998C>T (p.Arg2000Trp) variant in PLEC is associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).
The PLEKHG2 gene is associated with autosomal recessive leukodystrophy and acquired microcephaly with or without dystonia (MedGen UID: 908888).
The PLEKHG5 gene is associated with a spectrum of autosomal recessive neuropathies including intermediate Charcot-Marie-Tooth disease type C (CMTRIC) (MedGen UID: 815639), also referred to as distal spinal muscular atrophy 4 (DSMA4) (MedGen UID: 369682).
The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484).
The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313). Additionally, the PLN gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 20530761).
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 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 PMP2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1G (CMT1G) (MedGen UID: 1648290).
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 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 PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).
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 PODXL gene is associated with autosomal dominant focal segmental glomerulosclerosis (PMID: 24048372). Additionally, the PODXL gene has preliminary evidence supporting a correlation with autosomal recessive Parkinson disease (PMID: 28733970) and autosomal recessive nephrotic syndrome (PMID: 29244787).
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 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 PPM1D gene is associated with autosomal dominant Jansen de Vries syndrome (MedGen UID: 1385744).
The PPP1CB gene is associated with autosomal dominant Noonan syndrome-like disorder with loose anagen hair (MedGen UID: 1376945).
The PPP1R12A gene is associated with autosomal dominant genitourinary and/or brain malformation syndrome (MedGen UID: 1720440).
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 PPP2CA gene is associated with autosomal dominant intellectual disability (MedGen UID: 941281).
The PPP2R1A gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 899880).
The PPP2R5D gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 900298).
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 PQBP1 gene is associated with X-linked recessive Renpenning syndrome (MedGen UID: 208670).
The PRDM12 gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type VIII (HSAN8) (MedGen UID: 894363).
The PRDM16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005) and dilated cardiomyopathy (DCM) (OMIM: 615373).
The PRDM8 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 907932).
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 PRICKLE1 gene is associated with autosomal recessive progressive myoclonic epilepsy with ataxia (EPM1B) (MedGen UID: 394003).
The PRICKLE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant progressive myoclonic epilepsy 5 (PMID: 21276947, 23711981).
The PRIMA1 gene is associated with autosomal recessive nocturnal frontal lobe epilepsy (PMID: 26339676).
The PRKAG2 gene is associated with autosomal dominant glycogen storage related Wolff-Parkinson-White syndrome (MedGen UID: 12162) with or without hypertrophic cardiomyopathy (HCM) (MedGen UID: 331466).
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 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 PRX gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4F (CMT4F) (MedGen UID: 761704).
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 PTCH1 gene is associated with autosomal dominant basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (MedGen UID: 2554). Additionally, the PTCH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (HPE) (MedGen: 372134).
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 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 PYCR2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-10 (HLD10) (MedGen UID: 904191).
The PYGM gene is associated with autosomal recessive glycogen storage disease type V (GSD V), also known as McArdle disease (MedGen UID: 5341).
The PYROXD1 gene is associated with autosomal recessive myofibrillar myopathy 8 (MFM8) (MedGen UID: 934612).
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 RAB11A gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 29100083).
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 RAB18 gene is associated with autosomal recessive autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 481833).
The RAB39B gene is associated with X-linked Waisman syndrome (MedGen UID: 208674).
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 RAB7A gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) (MedGen UID: 371512).
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 RAF1 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 370589) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588). In addition, RAF1 is associated with autosomal dominant dilated cardiomyopathy (MedGen UID: 863093).
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 RALA gene is associated with autosomal dominant syndromic intellectual disability (PMID: 30500825).
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 RBCK1 gene is associated with autosomal recessive polyglucosan body myopathy with or without immunodeficiency (PGBM1) (MedGen UID: 863042).
The RBFOX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 23350840, 24039908, 25950944, 26174448).
The RBFOX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 24603971, 24039908).
The RBM10 gene is associated with X-linked recessive TARP syndrome (MedGen UID: 333324).
The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).
The RBPJ gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 766662).
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 RELN gene is associated with autosomal dominant and autosomal recessive lissencephaly (MedGen UID: 163213; PMID: 35769015) and autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 907609).
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 RETREG1 gene (formerly known as FAM134B) is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 2B (HSAN2B) (MedGen UID: 413474).
The RFT1 gene is associated with autosomal recessive RFT1-congenital disorder of glycosylation (CDG-In) (MedGen UID: 383145).
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 RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 815563), which is one of the RASopathies (MedGen UID: 1792298).
The RMND1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 11 (COXPD 11) (MedGen UID: 766981).
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 RNF13 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1681654).
The RNF213 gene is associated with autosomal dominant and recessive Moyamoya disease type 2 (MYMY2) (MedGen UID: 339584, PMID: 21048783, 22931863).
The RNF216 gene is associated with autosomal recessive Gordon Holmes syndrome (MedGen UID: 349137).
The ROGDI gene is associated with autosomal recessive Kohlschutter syndrome (MedGen UID: 98036).
The RORB gene is associated with autosomal dominant epilepsy (PMID: 27352968).
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 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 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 RUSC2 gene is associated with autosomal recessive syndromic intellectual disability (MedGen UID: 1622296).
The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).
The RYR1 gene is associated with autosomal dominant and recessive central core disease (CCD) (MedGen UID: 199773), autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), autosomal recessive multiminicore disease (MmD) (MedGen UID: 340597) and autosomal recessive centronuclear myopathy (CNM) (MedGen UID: 808163). It is also associated with autosomal dominant malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 443948) and KingāDenborough syndrome (KDS) (MedGen UID: 327082). The RYR1 gene also has preliminary evidence supporting a correlation with periodic paralysis (PMID: 29298851).
The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513) and a spectrum of arrhythmogenic cardiomyopathy conditions, including autosomal dominant ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (CRDS) (MedGen UID: 2039) and autosomal recessive ventricular fibrillation and sudden cardiac arrest and/or death (PMID: 31913406, 33686871, 33984427).
The RYR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant neurodevelopmental conditions including epileptic encephalopathy and autism spectrum disorder (PMID: 25262651, 28191890).
The SACS gene is associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (MedGen UID: 338620).
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 SATB2 gene is associated with autosomal dominant Glass syndrome (MedGen UID: 436765).
The SBF1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B3 (CMT4B3) (MedGen UID: 811329). Additionally, the SBF1 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 30763456, 23160955).
The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869). Additionally, the SBF2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital thrombocytopenia (PMID: 23334996).
The SCARB2 gene is associated with autosomal recessive progressive myoclonic epilepsy, with or without renal failure (MedGen UID: 155629).
The SCN10A gene is associated with autosomal recessive neuromuscular disease and epileptic encephalopathy (PMID: 28078312, 26757139). Additionally, the SCN10A gene has preliminary evidence supporting a correlation with autosomal dominant familial episodic pain syndrome type 2 (FEPS2) (MedGen UID: 816223), Brugada syndrome (BrS) (PMID: 24998131), and kidney stone disease (PMID: 29992996).
The SCN11A gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 7 (HSAN7) (MedGen UID: 816212) and familial episodic pain syndrome type 3 (FEPS3) (MedGen UID: 816229).
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 SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1376462). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), and cardiac conduction disease (PMID: 18464934).
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 SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814) and more severe, early-onset autosomal recessive conditions (MedGen UID: 325270, PMID: 35052356, 17442746, 20950709, 20564468, 32850980). Other SCN5A-related conditions have been reported (OMIM: 600163).
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 SCN9A gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 503203), primary erythromelalgia (MedGen UID: 8688), small fiber neuropathy (SFNP) (MedGen UID: 416701), and paroxysmal extreme pain disorder (PEXPD) (MedGen UID: 331565). The SCN9A gene is also associated with autosomal recessive congenital indifference to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563).
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 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 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 SELENON gene (formerly known as SEPN1) is associated with a spectrum of autosomal recessive congenital myopathies including rigid spine muscular dystrophy 1 (RSMD1) (MedGen UID: 98047) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).
The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).
The SEPSECS gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 2D (MedGen UID: 462490).
The SEPT9 (also known as SEPTIN9) gene is associated with autosomal dominant hereditary neuralgic amyotrophy (HNA) (MedGen UID: 320318).
The SERAC1 gene is associated with autosomal recessive 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome (MedGen UID: 766511).
The SERPINI1 gene is associated with autosomal dominant familial encephalopathy with neuroserpin inclusion bodies (FENIB) (MedGen UID: 346965).
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 SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 424706).
The SGCB gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E) (MedGen UID: 347674).
The SGCD gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) (MedGen UID: 331308). Additionally, the SGCD gene has preliminary evidence supporting a correlation with isolated autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 335735).
The SGCE gene is associated with autosomal dominant dystonia (DYT11) (MedGen UID: 331778) and autosomal dominant generalized epilepsy (PMID: 15389977, 24297365).
The SGCG gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) (MedGen UID: 98045).
The SGPL1 gene is associated with autosomal recessive nephrotic syndrome type 14 (NPHS14) (MedGen UID: 1617660). Additionally, the SGPL1 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (PMID: 28077491).
The SGSH gene is associated with autosomal recessive mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome A (MedGen UID: 39264).
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 SIGMAR1 gene is associated with autosomal recessive distal spinal muscular atrophy 2 (DSMA2) (MedGen UID: 344189) and amyotrophic lateral sclerosis 16 (ALS16) (MedGen UID: 482217).
The SIK1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 898954).
The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).
The SIN3A gene is associated with autosomal dominant Witteveen-Kolk syndrome (MedGen UID: 934771).
The SIX3 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 322517).
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 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 SLC18A3 gene is associated with autosomal recessive congenital myasthenic syndrome 21 (CMS21) (MedGen UID: 934621). Additionally, the SLC18A3 gene has preliminary evidence supporting a correlation with autosomal recessive fetal akinesia deformation sequence (PMID: 31059209).
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 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 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).
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 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 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 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).
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 SLC46A1 gene is associated with autosomal recessive hereditary folate malabsorption (MedGen UID: 83348).
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 SLC5A7 gene is associated with autosomal dominant distal hereditary motor neuropathy 7 (HMN7A) (MedGen UID: 322474) and autosomal recessive congenital myasthenic syndrome 20 (CMS20) (MedGen UID: 934661).
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 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 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 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 SMCHD1 gene is associated with digenic inheritance of facioscapulohumeral muscular dystrophy 2 (FSHD2) (MedGen UID: 320405) with D4Z4 hypomethylation (permissive 4qA allele), and autosomal dominant Bosma arhinia microphthalmia syndrome (BAMS) (MedGen UID: 355084).
The SMN1 gene is associated with autosomal recessive spinal muscular atrophy (SMA) (MedGen UID: 21913, 101816, 95975, 325364).; The SMN1 gene is associated with autosomal recessive spinal muscular atrophy (SMA) (MedGen UID: 21913, 101816, 95975, 325364). The SMN2 gene is not associated with disease, but variation in SMN2 copy number may modify the phenotype associated with SMN1-related SMA (PMID: 8824882, 9199562, 9837824 11839954, 15378550).
The SMPX gene is associated with X-linked nonsyndromic deafness (MedGen UID: 376307) and distal myopathy (PMID: 33974137).
The SNAP25 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 26795593, 25003006, 29100083), and congenital myasthenic syndrome (MedGen UID: 906793).
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 SNX14 gene is associated with autosomal recessive spinocerebellar ataxia 20 (SCAR20) (MedGen UID: 903867).
The SNX27 gene is associated with autosomal recessive syndromic epilepsy (PMID: 25894286).
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 SORL1 gene is associated with autosomal dominant Alzheimer disease (AD) (PMID: 26303663, 27026413).
The SOS1 gene is associated with autosomal dominant Noonan spectrum disorders (MedGen UID: 339908) and hereditary gingival fibromatosis (PMID: 11868160).
The SOS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 896352), which is one of the RASopathies (MedGen UID: 1792298).
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 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 SPEG gene is associated with autosomal recessive centronuclear myopathy 5 (CNM5) (MedGen UID: 863251). Additionally, the SPEG gene has preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy (PMID: 32925938) and autosomal dominant autism spectrum disorder (PMID: 28191890).
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 SPTLC1 gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 1A (HSAN1A) (MedGen UID: 5645) and juvenile amyotrophic lateral sclerosis (ALS) (PMID: 34059824).
The SPTLC2 gene is associated with autosomal dominant hereditary sensory and autonomic neuropathy type 1C (HSAN1C) (MedGen UID: 462246).
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).
SRD5A3 is associated with autosomal recessive SRD5A3-congenital disorder of glycosylation (CDG-Iq) (MedGen UID 461541).
The SRPX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked recessive intellectual disability (PMID: 30393191, 25167861).
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 STAC3 gene is associated with autosomal recessive congenital myopathy (MedGen UID: 340586).
The STAG1 gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 1622196).
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 STIL gene is associated with autosomal recessive primary microcephaly (MedGen UID: 436370).
The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 860163), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).
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 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 STX1B gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus, type 9 (GEFS+9) (MedGen UID: 863832).
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 SUMF1 gene is associated with autosomal recessive multiple sulfatase deficiency (MSD) (MedGen UID: 75664).
The SUN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive myoclonic atonic epilepsy (PMID: 31170314) and Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).
The SUN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).
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 SYN1 gene is associated with X-linked epilepsy with variable learning disabilities and behavior disorders (MedGen UID: 337214).
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 SYNE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 5 (EDMD5) (MedGen UID: 414111).
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 SYT2 gene is associated with autosomal dominant and recessive congenital myasthenic syndrome 7 (CMS7) (MedGen UID: 863475; PMID: 32776697).
The SZT2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815954). Additionally, the SZT2 gene has preliminary evidence supporting a correlation with autosomal recessive intellectual disability (PMID: 24324832).
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 TANGO2 gene is associated with autosomal recessive recurrent metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (MECRCN) (MedGen UID: 894196).
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 TAX1BP3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy with septo-optic dysplasia (PMID: 25645515).
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 TBC1D20 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 816595).
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 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 TCAP gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895), autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880), and autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).
The TCF20 gene is associated with autosomal dominant syndromic intellectual disability (MedGen: 1676192).
The TCF4 gene is associated with autosomal dominant Pitt-Hopkins syndrome (MedGen UID: 370910).
The TCTN2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TECPR2 gene is associated with autosomal recessive hereditary spastic paraplegia 49 (SPG49) (MedGen UID: 762260).
The TELO2 gene is associated with autosomal recessive You-Hoover-Fong syndrome (MedGen UID: 934745).
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 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 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).
The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441). Additionally, the TIA1 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 26 (ALS26) (MedGen UID: 977766).
The TIMM50 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 1622927).
The TIMMDC1 gene is associated with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648395).
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 TMEM106B gene is associated with autosomal dominant hypomyelinating leukodystrophy (MedGen UID: 1631337).
The TMEM126B gene is associated with autosomal recessive mitochondrial complex I deficiency (MedGen UID: 1648451).
TMEM165 is associated with autosomal recessive TMEM165-congenital disorder of glycosylation (CDG-IIk) (MedGen UID 472402).
The TMEM216 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM230 gene is associated with autosomal dominant Parkinson disease (PMID: 27270108).
The TMEM240 gene is associated with autosomal dominant spinocerebellar ataxia 21 (SCA21) (MedGen UID: 375311).
The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). Additionally, the TMEM43 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 7 (EDMD7) (MedGen UID: 765974) and autosomal dominant auditory neuropathy spectrum disorder (PMID: 34050020).
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 TMPO gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant high myopia (MedGen UID: 78759) and dilated cardiomyopathy (DCM) (MedGen UID: 2880).
The TMTC3 gene is associated with autosomal recessive cortical malformations, also known as lissencephaly (MedGen UID: 934613).
The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442487) and dilated cardiomyopathy (DCM) (MedGen UID: 395631). Additionally, the TNNC1 gene has preliminary evidence supporting a correlation with autosomal dominant restrictive cardiomyopathy (PMID: 30384889).
The TNNI3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880) and restrictive cardiomyopathy (RCM) (MedGen UID: 396236), and with autosomal recessive dilated cardiomyopathy (PMID: 35838873). Additionally, the TNNI3 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (PMID: 30279906).
The TNNT1 gene is associated with autosomal recessive nemaline myopathy 5 (NEM5) (MedGen UID: 344273). Additionally, the TNNT1 gene has preliminary evidence supporting a correlation with autosomal dominant nemaline myopathy (PMID: 29178646).
The TNNT2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), restrictive cardiomyopathy (RCM) (MedGen UID: 382807) and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).
The TNNT3 gene is associated with autosomal dominant distal arthrogryposis type 2B2 (DA2B2) (MedGen UID: 941428). Additionally, the TNNT3 gene has preliminary evidence supporting a correlation with autosomal recessive nemaline myopathy (PMID: 29266598).
The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983).
The TOE1 gene is associated with autosomal recessive pontocerebellar hypoplasia (MedGen UID: 767140).
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 TOR1AIP1 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) (MedGen UID: 934698). Additionally, the TOR1AIP1 gene has preliminary evidence supporting a correlation with autosomal recessive dystonia, cerebellar atrophy and cardiomyopathy (PMID: 25425325).
The TP53RK gene is associated with autosomal recessive Galloway-Mowat syndrome (MedGen UID: 1613511).
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 TPM1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).
The TPM2 gene is associated with a spectrum of autosomal dominant neuromuscular conditions including nemaline myopathy 4 (NEM4) (MedGen UID: 324513), congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and distal arthrogryposis type 1A (DA1A) (MedGen UID: 113099). The TPM2 gene is also associated with autosomal recessive congenital myopathy (PMID: 19155175, 22798622).
The TPM3 gene is associated with autosomal dominant and recessive congenital myopathies including nemaline myopathy 1 (NEM1) (MedGen UID: 373089) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).
The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).
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 TRIM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease, type 2R (CMT2R) (MedGen UID: 815985).
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 TRIM8 gene is associated with autosomal dominant focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) (MedGen UID: 982747).
The TRMT10A gene is associated with autosomal recessive microcephaly, short stature, and impaired glucose metabolism (MSSGM) (MedGen UID: 863434).
The TRMT5 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 26 (COXPD26) (MedGen UID: 907399).
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 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 TSEN2 gene is associated with autosomal recessive pontocerebellar hypoplasia type 2B (PCH2B) (MedGen UID: 393505). Additionally, the TSEN2 gene has preliminary evidence supporting a correlation with autosomal recessive TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure) (PMID: 34964109).
The TSEN34 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pontocerebellar hypoplasia (PMID: 18711368).
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 TTN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TTN gene is associated with a diverse group of disorders affecting skeletal muscles, including autosomal dominant tibial muscular dystrophy (TMD) (MedGen UID: 333047) and autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) (MedGen UID: 324741), autosomal recessive centronuclear myopathy (CNM) (PMID: 23975875), and autosomal dominant hereditary myopathy with early respiratory failure (HMERF) (MedGen UID: 350930). Additional TTN-related conditions have also been reported (OMIM: 188840).
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 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 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 TXNRD2 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 21247928).
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 UBA1 gene is associated with X-linked spinal muscular atrophy 2 (SMAX2) (MedGen UID: 337123). In addition, the UBA1 gene has evidence supporting a correlation with somatic VEXAS syndrome (MedGen UID: 1765785). However, somatic conditions are not evaluated by our assays.
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 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 UFM1 gene is associated with autosomal recessive hypomyelinating leukodystrophy-14 (HDL14) (MedGen UID: 1635255).
The UNC13D gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 3 (FHL3) (MedGen UID: 332383).
The UNC80 gene is associated with autosomal recessive infantile hypotonia with intellectual disability and characteristic facies (MedGen UID: 907651).
The UPB1 gene is associated with autosomal recessive beta-ureidopropionase deficiency (MedGen UID: 226944).
The USP7 gene is associated with an autosomal dominant neurodevelopmental condition involving neurological and behavioral anomalies (PMID: 30679821).
The USP8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 59 (SPG59) (PMID: 24482476) and autosomal dominant Cushing syndrome (MedGen UID: 66381) and atypical Rett syndrome (PMID: 30842224).
The USP9X gene is associated with X-linked intellectual disability (MedGen UID: 813076; PMID 26833328).
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 VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the VCL gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 23785128) and left ventricular noncompaction (PMID: 28798025).
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 VLDLR gene is associated with autosomal recessive cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (CAMRQ1) (MedGen UID: 1639436).
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 VPS13C gene is associated with autosomal recessive Parkinson disease 23 (PARK23) (MedGen UID: 896607).
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 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 VRK1 gene is associated with a spectrum of autosomal recessive motor neuron disorders including distal hereditary motor neuropathy (dHMN) (PMID: 31090908, 31837156), amyotrophic lateral sclerosis (ALS) (PMID: 26583493), isolated spinal muscular atrophy (SMA) (PMID: 27281532), and pontocerebellar hypoplasia with infantile spinal muscular atrophy type 1A (PCH1A) (MedGen UID: 1630972).
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 WDR45 gene is associated with X-linked dominant beta-propeller protein-associated neurodegeneration (BPAN) (MedGen UID: 763887).
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 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 WNK1 gene is associated with autosomal dominant pseudohypoaldosteronism type 2C (PHA2C) (MedGen UID: 327089) and autosomal recessive hereditary autonomic and sensory neuropathy type 2A (HSAN2A) (MedGen UID: 416701).
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 XK gene is associated with X-linked recessive McLeod neuroacanthocytosis syndrome (MedGen UID: 140765).
The XPR1 gene is associated with autosomal dominant primary basal ganglia calcification 6 (BGC6) (MedGen UID: 901404).
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 YWHAE gene is associated with autosomal dominant neurodevelopmental disease with brain abnormalities (PMID: 28542865, 36999555).
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 ZBTB20 gene is associated with autosomal dominant Primrose syndrome (MedGen UID: 162911).
The ZC4H2 gene is associated with X-linked Wieacker-Wolff syndrome (WRWF) (MedGen UID: 163227).
The ZDHHC9 gene is associated with X-linked recessive intellectual disability (ID) (Med Gen UID: 477037).
The ZEB2 gene is associated with autosomal dominant Mowat-Wilson syndrome (MedGen UID: 341067).
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 ZFYVE27 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 33 (SPG33) (MedGen UID: 339943).
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 ZMIZ1 gene is associated with an autosomal dominant neurodevelopmental disorder (MedGen UID: 1684792).
The ZMYND11 gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 863604).
The ZNF335 gene is associated with autosomal recessive primary microcephaly (MedGen UID: 767413).
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).
