Cardiology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page and in Neurology fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

up to 149 genes

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

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Genetic testing for up to 149 genes that cause hereditary primary arrhythmia and/or cardiomyopathy, as well as syndromic causes of cardiomyopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTC1 ACTN2 AGL ANK2 BAG3 CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA GPD1L HCN4 JUP KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LAMP2 LMNA MYBPC3 MYH7 MYL2 MYL3 MYL4 NKX2-5 PKP2 PLN PRKAG2 RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TRDN TTN TTR VCL

Add-on Preliminary-evidence Genes for Arrhythmia and Cardiomyopathy:
AKAP9 ANKRD1 CACNA2D1 CALR3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 GJA5 ILK JPH2 KCND3 KCNE3 KCNE5 KCNJ5 KCNJ8 KCNK3 LAMA4 LDB3 LRRC10 MED12 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NPPA PDLIM3 PLEKHM2 PRDM16 RANGRF SCN10A SCN1B SCN2B SCN3B SCN4B SLMAP SNTA1 TMPO TRPM4 TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on RASopathy Genes:
A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Structural heart defects or hypertrophic cardiomyopathy are also common features of RASopathy conditions. Clinicians can choose to include these genes for no additional charge.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 CPT2 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

Add-on Sudden Unexpected Death in Epilepsy (SUDEP) Genes:
DEPDC5 KCNQ2 KCNQ3 KCNT1 PCDH19 PRRT2 SCN1A SCN8A SCN9A SLC2A1

The symptoms associated with arrhythmia and seizures can appear very similar and are known to co-occur in some cases. Some clinicians may wish to include a selection of genes associated with epilepsy for individuals with a differential diagnosis of arrhythmia vs. seizures, or a primary indication of arrhythmia and a family history of seizures.

up to 73 genes

Invitae Arrhythmia Comprehensive Panel

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Genetic testing for up to 73 genes that cause arrhythmia and arrhythmogenic cardiomyopathy, including long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular cardiomyopathy (ARVC).

GENES TESTED:

Primary Panel:
ABCC9 ACTN2 ANK2 CACNA1C CACNB2 CALM1 CALM2 CALM3 CASQ2 CAV3 DES DSC2 DSG2 DSP EMD FLNC GPD1L HCN4 JUP KCNA5 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LMNA MYL4 NKX2-5 PKP2 PLN PRKAG2 RBM20 RYR2 SCN5A TMEM43 TNNI3 TNNT2 TRDN TTN

Add-on Preliminary-evidence Genes for Arrhythmia:
AKAP9 ANKRD1 CACNA2D1 CTNNA3 GJA5 KCND3 KCNE3 KCNE5 KCNJ5 KCNJ8 KCNK3 LDB3 NPPA PDLIM3 RANGRF SCN10A SCN1B SCN2B SCN3B SCN4B SLMAP SNTA1 TGFB3 TRPM4

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Sudden Unexpected Death in Epilepsy (SUDEP) Genes:
DEPDC5 KCNQ2 KCNQ3 KCNT1 PCDH19 PRRT2 SCN1A SCN8A SCN9A SLC2A1

The symptoms associated with arrhythmia and seizures can appear very similar and are known to co-occur in some cases. Some clinicians may wish to include a selection of genes associated with epilepsy for individuals with a differential diagnosis of arrhythmia vs. seizures, or a primary indication of arrhythmia and a family history of seizures.

up to 24 genes

Invitae Arrhythmogenic Cardiomyopathy Panel

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Genetic testing for up to 24 genes that cause arrhythmogenic cardiomyopathy, including ARVC and arrhythmogenic forms of DCM and HCM.

GENES TESTED:

Primary Panel:
ACTN2 DES DSC2 DSG2 DSP EMD FLNC JUP LMNA PKP2 PLN PRKAG2 RBM20 RYR2 SCN5A TMEM43 TNNI3 TNNT2 TTN

Add-on Preliminary-evidence Genes for Arrhythmogenic Cardiomyopathy:
ANKRD1 CTNNA3 LDB3 PDLIM3 TGFB3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 20 genes

Invitae Brugada Syndrome Panel

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Genetic testing for up to 20 genes that cause Brugada syndrome, an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

GENES TESTED:

Primary Panel:
ABCC9 CACNA1C CACNB2 GPD1L HCN4 KCNH2 PKP2 SCN5A

Add-on Preliminary-evidence Genes for Brugada Syndrome:
CACNA2D1 KCND3 KCNE3 KCNE5 KCNJ8 RANGRF SCN10A SCN1B SCN2B SCN3B SLMAP TRPM4

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

8 genes

Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel

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Genetic testing for 8 genes that cause catecholaminergic polymorphic ventricular tachycardia (CPVT), an arrhythmia that can cause fainting and/or cardiac arrest.

GENES TESTED:

ANK2 CALM1 CALM2 CALM3 CASQ2 KCNJ2 RYR2 TRDN

up to 17 genes

Invitae Long QT Syndrome Panel

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Genetic testing for up to 17 genes that cause longQT syndrome (LQTS), an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

GENES TESTED:

Primary Panel:
ANK2 CACNA1C CALM1 CALM2 CALM3 CAV3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A TRDN

Add-on Preliminary-evidence Genes for Long QT Syndrome:
AKAP9 KCNJ5 SCN4B SNTA1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 6 genes

Invitae Short QT Syndrome Panel

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Genetic testing for up to 6 genes that cause short QT syndrome (SQTS), an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

GENES TESTED:

Primary Panel:
CACNA1C CACNB2 KCNH2 KCNJ2 KCNQ1

Add-on Preliminary-evidence Gene for Short QT Syndrome:
CACNA2D1

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 106 genes

Invitae Cardiomyopathy Comprehensive Panel

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Genetic testing for up to 106 genes that cause inherited cardiomyopathy, including arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular noncompaction (LVNC), and some syndromic causes of cardiomyopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTC1 ACTN2 AGL BAG3 CACNA1C CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FHL1 FKRP FKTN FLNC GAA GLA HCN4 JUP LAMP2 LMNA MYBPC3 MYH7 MYL2 MYL3 PKP2 PLN PRKAG2 RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

Add-on Preliminary-evidence Genes for Cardiomyopathy:
ANKRD1 CALR3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 ILK JPH2 LAMA4 LDB3 LRRC10 MED12 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 TGFB3 TMPO TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on RASopathy Genes:
A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Structural heart defects or hypertrophic cardiomyopathy are also a common feature of RASopathy conditions. Clinicians can also choose to include genes associated with RASopathy conditions when placing their order at no additional charge.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 CPT2 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder.

up to 24 genes

Invitae Arrhythmogenic Cardiomyopathy Panel

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Genetic testing for up to 24 genes that cause arrhythmogenic cardiomyopathy, including ARVC and arrhythmogenic forms of DCM and HCM.

GENES TESTED:

Primary Panel:
ACTN2 DES DSC2 DSG2 DSP EMD FLNC JUP LMNA PKP2 PLN PRKAG2 RBM20 RYR2 SCN5A TMEM43 TNNI3 TNNT2 TTN

Add-on Preliminary-evidence Genes for Arrhythmogenic Cardiomyopathy:
ANKRD1 CTNNA3 LDB3 PDLIM3 TGFB3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

up to 70 genes

Invitae Dilated Cardiomyopathy Panel

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Genetic testing for up to 70 genes that cause dilated cardiomyopathy (DCM), a cardiomyopathy that can cause chest pain, heart failure, arrhythmia or stroke.

GENES TESTED:

Primary Panel:
ABCC9 ACTC1 ACTN2 BAG3 CAV3 CRYAB CSRP3 DES DMD DOLK DSC2 DSG2 DSP EMD EYA4 FKRP FKTN FLNC JUP LAMP2 LMNA MYBPC3 MYH7 PKP2 PLN RAF1 RBM20 RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TMEM43 TNNC1 TNNI3 TNNT2 TPM1 TTN TTR VCL

Add-on Preliminary-evidence Genes for Dilated Cardiomyopathy:
ANKRD1 CHRM2 CTF1 FHL2 GATA4 GATA6 GATAD1 ILK LAMA4 LDB3 LRRC10 MED12 MYH6 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 TMPO TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 CPT2 DNAJC19 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

5 genes

Invitae Hereditary Hemochromatosis Panel

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Genetic testing for 5 genes associated with hereditary hemochromatosis (HH), a genetic disorder that causes increased iron absorption and can lead to iron overload.

GENES TESTED:

HAMP HFE HFE2 SLC40A1 TFR2

up to 60 genes

Invitae Hypertrophic Cardiomyopathy Panel

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Genetic testing for up to 60 genes that cause hypertrophic cardiomyopathy (HCM), a cardiomyopathy that can cause chest pain, heart failure, or cardiac arrest.

GENES TESTED:

Primary Panel:
ACTC1 ACTN2 AGL BAG3 CACNA1C CAV3 CSRP3 DES FHL1 FLNC GAA GLA LAMP2 MYBPC3 MYH7 MYL2 MYL3 PLN PRKAG2 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTR VCL

Add-on Preliminary-evidence Genes for Hypertrophic Cardiomyopathy:
ANKRD1 CALR3 GATA4 JPH2 LDB3 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEXN PDLIM3

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on RASopathy Genes:
A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

Structural heart defects or hypertrophic cardiomyopathy are also a common feature of RASopathy conditions. Clinicians can also choose to include genes associated with RASopathy conditions when placing their order at no additional charge.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL CPT2 ELAC2 MTO1

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder.

up to 19 genes

Invitae Left Ventricular Noncompaction Panel

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Genetic testing for up to 19 genes that cause left ventricular noncompaction (LVNC), a cardiomyopathy causing excessive trabeculations, arrhythmia, and/or heart failure.

GENES TESTED:

Primary Panel:
ACTC1 DSP HCN4 LAMP2 LMNA MYBPC3 MYH7 PLN RYR2 SCN5A TAZ TNNI3 TNNT2 TPM1 VCL

Add-on Preliminary-evidence Genes for Left Ventricular Noncompaction:
DTNA LDB3 PLEKHM2 PRDM16

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

18 genes

Invitae RASopathies Comprehensive Panel

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Genetic testing for 18 genes that are associated with RASopathies (also known as Noonan spectrum disorders)—a class of pediatric disorders whose spectrum of symptoms include distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies.

GENES TESTED:

A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

1 gene

Invitae Transthyretin Amyloidosis Test

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Genetic testing for the gene TTR which causes transthyretin amyloidosis, a progressive neuropathy featuring cardiomyopathy, nephropathy, or vitreous opacities.

GENES TESTED:

TTR

up to 158 genes

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

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Genetic testing for up to 158 genes that are known to be associated with either cardiomyopathy or skeletal myopathy.

GENES TESTED:

Primary Panel:
ABCC9 ACTA1 ACTC1 ACTN2 AGL ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1C CAPN3 CAV3 CCDC78 CFL2 CHKB CNTN1 COL12A1 COL6A1 COL6A2 COL6A3 CPT2 CRYAB CSRP3 DAG1 DES DMD DNAJB6 DNM2 DOLK DPM1 DPM2 DPM3 DSC2 DSG2 DSP DYSF EMD EYA4 FHL1 FKBP14 FKRP FKTN FLNC GAA GLA GMPPB GNE HCN4 ISPD ITGA7 JUP KBTBD13 KLHL40 KLHL41 LAMA2 LAMP2 LARGE1 LMNA LMOD3 MATR3 MEGF10 MTM1 MYBPC3 MYH7 MYL2 MYL3 MYOT MYPN NEB PKP2 PLEC PLN PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAG2 RAF1 RBM20 RYR1 RYR2 SCN5A SELENON SGCA SGCB SGCD SGCG SLC22A5 SQSTM1 STAC3 STIM1 TAZ TCAP TIA1 TMEM43 TMEM5 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TOR1AIP1 TPM1 TPM2 TPM3 TRAPPC11 TRIM32 TTN TTR VCL VCP

Add-on Preliminary-evidence Genes for Cardiomyopathy and Skeletal Muscle Disease:
ANKRD1 CALR3 CHRM2 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 HNRNPDL ILK JPH2 LAMA4 LDB3 LIMS2 LRRC10 MYF6 MYH6 MYLK2 MYOM1 MYOZ2 NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 SUN1 SUN2 SYNE1 SYNE2 TGFB3 TMPO TXNRD2

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

Add-on Autosomal Recessive Syndromic Pediatric Cardiomyopathy Genes:
ACADVL ALMS1 DNAJC19 ELAC2 MTO1 SDHA TMEM70

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

up to 25 genes

Invitae Aortopathy Comprehensive Panel

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Genetic testing for up to 25 genes which cause aortopathy; presenting as isolated thoracic aortic aneurysms and/or dissections (TAAD) or as a syndrome.

GENES TESTED:

Primary Panel:
ACTA2 CBS COL3A1 COL5A1 COL5A2 EFEMP2 FBN1 FBN2 FLNA MED12 MYH11 MYLK NOTCH1 PLOD1 PRKG1 SKI SLC2A10 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Add-on Preliminary-evidence Gene for Aortopathy:
MAT2A SMAD6

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include a gene which does not currently have a definitive clinical association, but which may prove to be clinically significant in the future. This gene can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

15 genes

Invitae Ehlers-Danlos Syndrome Panel

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Genetic testing for 15 genes which cause Ehlers-Danlos syndrome (EDS) or other conditions that may present with joint hypermobility, connective tissue or bone fragility, myopathy with joint laxity, and/or aortopathy.

GENES TESTED:

ADAMTS2 ATP7A CHST14 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 CRTAP FKBP14 FLNA P3H1 PLOD1 SLC39A13

up to 6 genes

Invitae Loeys-Dietz Syndrome Panel

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Genetic testing for 4 genes that cause Loeys-Dietz syndrome (LDS), a connective tissue disorder with vascular involvement, 2 genes with clinical overlap can be added.

GENES TESTED:

Primary Panel:
SMAD3 TGFB2 TGFBR1 TGFBR2

Add-on Clinically-overlapping Genes for Loeys-Dietz Syndrome:
FBN1 TGFB3

The clinical presentation of LDS can overlap and be difficult to distinguish from other types of connective tissue conditions and aortopathies. Specifically, there is strong clinical overlap between LDS and the disorders caused by the TGFB3 and FBN1 genes. If clinically indicated, these genes can be added at no additional charge.

1 gene

Invitae Marfan Syndrome Test

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Genetic testing for the gene FBN1 which causes Marfan syndrome, a connective tissue disorder involving the cardiovascular, skeletal, pulmonary, and ocular systems.

GENES TESTED:

FBN1

4 genes

Invitae Familial Hypercholesterolemia Panel

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Genetic testing for 4 genes that cause familial hypercholesterolemia (FH), a hereditary risk factor for premature coronary artery disease.

GENES TESTED:

APOB LDLR LDLRAP1 PCSK9

up to 9 genes

Invitae Pulmonary Arterial Hypertension Panel

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Genetic testing for up to 9 genes which cause pulmonary arterial hypertension (PAH), a hypertension featuring fatigue, palpitations, edema, and heart failure.

GENES TESTED:

Primary Panel:
ACVRL1 BMPR2 CAV1 ENG

Add-on Preliminary-evidence Genes for Pulmonary Arterial Hypertension:
BMPR1B GDF2 KCNA5 KCNK3 SMAD9

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

5 genes

Invitae Hereditary Hemorrhagic Telangiectasia Panel

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Genetic testing for 5 genes that cause hereditary hemorrhagic telangiectasia (HHT), a vascular dysplasia resulting in abnormalities of arterial and venous vessels.

GENES TESTED:

ACVRL1 ENG GDF2 RASA1 SMAD4

up to 4 genes

Invitae Capillary Malformation-Arteriovenous Malformation Syndrome Test

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Genetic testing for capillary malformation-arteriovenous malformation (CM-AVM), a vascular disorder characterized by capillary malformations, which generally present at birth, and may also include arteriovenous malformations, arteriovenous fistulas, or Parkes-Weber syndrome.

GENES TESTED:

Primary Panel:
RASA1

Add-on Hereditary Hemorrhagic Telangiectasia Genes:
ACVRL1 ENG SMAD4

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by the presence of multiple arteriovenous malformations (AVMs). Depending on the clinical presentation of the patient, clinicians may wish to include additional genes associated with HHT for no additional charge.

42 genes

Invitae Congenital Heart Disease Panel

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This panel tests 42 genes associated with isolated and syndromic causes of congenital heart disease, including some genes associated with heterotaxy that have specifically been linked to congenital heart defects.

GENES TESTED:

ACTC1 ACVR2B ALMS1 BCOR BRAF CBL CHD7 CRELD1 ELN FOXH1 GATA4 GATA6 GDF1 GJA1 GPC3 HAND1 HRAS JAG1 KRAS LEFTY2 MAP2K1 MAP2K2 MED13L MEIS2 MYH6 NKX2-5 NKX2-6 NODAL NOTCH1 NR2F2 NRAS NSD1 PTPN11 RAF1 RIT1 SHOC2 SMAD6 SOS1 TBX1 TBX5 ZFPM2 ZIC3

1 gene

Invitae CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

GENES TESTED:

CHD7

1 gene

Invitae Holt-Oram Syndrome Test

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Genetic testing for TBX5, which is the primary gene associated with Holt-Oram syndrome (HOS), a disorder characterized by upper-limb abnormalities and heart defects.

GENES TESTED:

TBX5

18 genes

Invitae RASopathies Comprehensive Panel

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Genetic testing for 18 genes that are associated with RASopathies (also known as Noonan spectrum disorders)—a class of pediatric disorders whose spectrum of symptoms include distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies.

GENES TESTED:

A2ML1 BRAF CBL HRAS KRAS MAP2K1 MAP2K2 NF1 NRAS PTPN11 RAF1 RASA1 RIT1 RRAS SHOC2 SOS1 SOS2 SPRED1

1 gene

Invitae Sotos Syndrome Test

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Genetic testing for NSD1, the primary gene associated with Sotos syndrome; characterized by distinct facial features, excessive growth during childhood, macrocephaly, and mild-to-severe learning disability.

GENES TESTED:

NSD1

Gene
A
A2ML1
Synonym(s): CPAMD9

The A2ML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (OMIM# 610627; PMID: 24939586).

ABCC9

The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647), dilated cardiomyopathy (DCM) (MedGen UID: 325268), Brugada syndrome (BrS) (PMID: 24439875), and atrial fibrillation (MedGen UID: 481325).

ACADVL
Synonym(s): ACAD6; LCACD; VLCAD

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 87459).

ACTA1
Synonym(s): ACTA

The ACTA1 gene is associated with autosomal dominant and recessive nemaline myopathy 3 (NEM3) (MedGen UID: 371799) and autosomal dominant congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM# 102610).

ACTA2

The ACTA2 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 435866). Other ACTA2-related conditions have been reported (OMIM: 102620).

ACTC1
Synonym(s): ACTC; ASD5; CMD1R; CMH11; LVNC4

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) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

ACTN2

The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

ACVR2B
Synonym(s): ActR-IIB; ACTRIIB; HTX4

The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).

ACVRL1
Synonym(s): ACVRLK1; ORW2

The ACVRL1 gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 324960) and pulmonary hypertension (MedGen UID: 57749).

ADAMTS2

The ADAMTS2 gene is associated with autosomal recessive Ehlers-Danlos syndrome type VIIC (EDS VIIC) (MedGen UID: 397792).

AGL
Synonym(s): GDE

The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).

AKAP9
Synonym(s): AKAP350; AKAP450; CG-NAP; HYPERION; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9

The AKAP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 11 (MedGen UID: 437218).

ALMS1
Synonym(s): ALSS

The ALMS1 gene is associated with autosomal recessive Alstrom syndrome (MedGen UID: 78675).

ANK2
Synonym(s): LQT4

The ANK2 gene is associated with autosomal dominant long QT syndrome (LQTS) type 4 (MedGen UID: 331449). Other ANK2-related conditions have been reported (OMIM: 106410).

ANKRD1

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).

ANO5
Synonym(s): GDD1; LGMD2L; TMEM16E

The ANO5 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750). It is also associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575).

APOB

The APOB gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 309962) and familial hypobetalipoproteinemia (FHBL) (MedGen UID: 775747). Generally the presence of two pathogenic variants for either condition is associated with severe forms commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437) and homozygous FHBL (Ho-FHBL), respectively.

ATP2A1

The ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).

ATP7A
Synonym(s): DSMAX; MK; MNK; SMAX3

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).

B
B3GALNT2
Synonym(s): B3GalNAc-T2; MDDGA11

The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).

B4GAT1
Synonym(s): B3GN-T1; B3GNT1; B3GNT6; BETA3GNTI; iGAT; iGNT; MDDGA13

The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).

BAG3

The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643) and myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119).

BCOR
Synonym(s): ANOP2; MAA2; MCOPS2

The BCOR gene is associated with X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547). Additionally, the BCOR gene has preliminary evidence supporting a correlation with X-linked recessive Lenz microphthalmia syndrome (PubMed: 26694549).

BIN1
Synonym(s): AMPHL

The BIN1 gene is associated with autosomal recessive and dominant centronuclear myopathy (MedGen UID: 98049; PMID: 25260562).

BMPR1B

The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 324453). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly (MedGen UID: 318690) and pulmonary arterial hypertension (MedGen UID: 57749).

BMPR2
Synonym(s): PPH1

The BMPR2 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749).

BRAF
Synonym(s): B-raf; B-RAF1; BRAF1; NS7; RAFB1

The BRAF gene is associated with the autosomal dominant Noonan syndrome (MedGen UID: 462320) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 266149).

C
CACNA1C
Synonym(s): CACNL1A1; CCHL1A1

The CACNA1C gene is associated with autosomal dominant Timothy syndrome, also known as long QT syndrome (LQTS) type 8 (MedGen UID: 331395), Brugada syndrome (BrS) (MedGen UID: 395633), and short QT syndrome (SQTS) (MedGen UID: 378835).

CACNA2D1
Synonym(s): CACNA2; CACNL2A; LINC01112; MHS3

The CACNA2D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 222975) and short QT syndrome (SQTS) (MedGen UID: 378835).

CACNB2
Synonym(s): CACNLB2; MYSB

The CACNB2 gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 395632) and short QT syndrome (SQTS) (MedGen UID: 378835).

CALM1
Synonym(s): CALML2

The CALM1 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 766961) and long QT syndrome (LQTS) (PMID: 23388215).

CALM2

The CALM2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS) (PMID: 23388215).

CALM3

The CALM3 gene is associated with autosomal dominant long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 25460178).

CALR3

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).

CAPN3
Synonym(s): LGMD2; LGMD2A

The CAPN3 gene is associated with autosomal recessive and dominant limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391; PMID:27259757).

CASQ2

The CASQ2 gene is associated with autosomal recessive catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 393837). Additionally, the CASQ2 gene has preliminary evidence supporting a correlation with autosomal dominant CPVT (PMID: 27157848).

CAV1
Synonym(s): CAV

The CAV1 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Other CAV1-related conditions have been reported (OMIM: 601047).

CAV3

The CAV3 gene is associated with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195). It is also associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 833809), 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).

CBL
Synonym(s): C-CBL; CBL2; FRA11B; NSLL; RNF55

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID 462153).

CBS
Synonym(s): HIP4

The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).

CCDC78
Synonym(s): C16orf25

The CCDC78 gene is associated with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).

CFL2

The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).

CHD7
Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

CHKB
Synonym(s): CHKL

The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).

CHRM2

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).

CHST14
Synonym(s): ATCS; D4ST1; EDSMC1; HNK1ST

CHST14 is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).

CNTN1

The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).

COL12A1

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).

COL1A1
Synonym(s): EDSC; OI1; OI2; OI3; OI4

The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367).

COL1A2
Synonym(s): OI4

The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359).

COL3A1
Synonym(s): EDS4A

The COL3A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), vascular type (MedGen UID: 82790).

COL5A1

The COL5A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660, MedGen UID: 120628).

COL5A2

The COL5A2 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660).

COL6A1

The COL6A1 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393).

COL6A2

The COL6A2 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) 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).

COL6A3

The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 331805) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A3-related disorders have also been reported (OMIM: 120250).

CPT2
Synonym(s): CPT1; CPTASE; IIAE4

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896).

CRELD1
Synonym(s): AVSD2; CIRRIN

The CRELD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrioventricular septal defects (PMID: 15857420, 21080147).

CRTAP
Synonym(s): CASP; LEPREL3; OI7; P3H5

The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).

CRYAB
Synonym(s): CMD1II; CRYA2; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2

The CRYAB gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563) and cataracts (MedGen UID: 462415). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735).

CSRP3

The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 429755) and dilated cardiomyopathy (DCM) (MedGen UID: 334498).

CTF1

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).

CTNNA3

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).

D
DAG1
Synonym(s): DAG

The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).

DEPDC5
Synonym(s): DEP.5; FFEVF

The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 348951) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432738).

DES

The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (MedGen UID: 815467) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998).

DMD

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 (DCM) (MedGen UID: 472068).

DNAJB6
Synonym(s): LGMD1D

The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 460114) and distal myopathy (PMID: 26205529).

DNAJC19
Synonym(s): PAM18; TIM14; TIMM14

The DNAJC19 gene is associated with autosomal recessive 3-Methylglutaconic aciduria, type V (MedGen UID: 347542).

DNM2

The DNM2 gene is associated with autosomal dominant centronuclear myopathy (DNM2-CNM) (MedGen UID: 322437), dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346) and Charcot-Marie-Tooth disease type 2M (CMT2M) (OMIM: 606482). The DNM2 gene also has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).

DOLK
Synonym(s): CDG1M; DK; DK1; SEC59; TMEM15

The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).

DPM1
Synonym(s): CDGIE; MPDS

The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).

DPM2
Synonym(s): CDG1U

The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).

DPM3
Synonym(s): CDG1O

The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).

DSC2
Synonym(s): DSC3

The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237) and autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).

DSG2

The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543) and dilated cardiomyopathy (DCM) (MedGen UID: 414552).

DSP

The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 808093), as well as autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124). Additional DSP-related conditions have been reported (OMIM: 125647).

DTNA

The DTNA 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).

DYSF
Synonym(s): LGMD2B

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).

E
EFEMP2
Synonym(s): FBLN4

The EFEMP2 gene is associated with autosomal recessive cutis laxa type 1B (ARCL1B) (MedGen UID: 482428) and thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423).

ELAC2

The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 322999).

ELN
Synonym(s): SVAS; WBS; WS

The ELN gene is associated with autosomal dominant supravalvar aortic stenosis (SVAS) (MedGen UID: 2001), autosomal dominant cutis laxa (MedGen UID: 120630), and is one of the genes commonly deleted in the microdeletion associated with Williams syndrome (WS) (MedGen UID: 59799).

EMD

The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284).

ENG
Synonym(s): ORW; ORW1

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 52657) and hereditary pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (JPS) (PMID: 16287957, 23399955).

EYA4
Synonym(s): CMD1J; DFNA10

The EYA4 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with hearing loss (MedGen UID: 343105). Additional EYA4-related conditions have been reported (OMIM: 603550).

F
FBN1
Synonym(s): FBN; MFS1; WMS

The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423), isolated ectopia lentis (MedGen UID: 342716), and stiff skin syndrome (MedGen UID: 348877). Other FBN1-related conditions have been reported (OMIM: 134797).

FBN2
Synonym(s): CCA

The FBN2 gene is associated with autosomal dominant congenital contractural arachnodactyly (MedGen UID: 67391).

FHL1
Synonym(s): FHL1A

The FHL1 gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathies (RBM) (MedGen UIDs: 394710, 394714) and hypertrophic cardiomyopathy (PMID: 24114807). Other FHL1-related conditions have been reported (OMIM: 300163).

FHL2

The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 25358972).

FKBP14

The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).

FKRP
Synonym(s): LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5

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), and dilated cardiomyopathy (DCM) (MedGen UID:2880).

FKTN
Synonym(s): CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4

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), and dilated cardiomyopathy (DCM) (MedGen UID: 370583).

FLNA
Synonym(s): FLN; FLN1; OPD1; OPD2

The FLNA gene is associated with X-linked Ehlers-Danlos syndrome (EDS) with periventricular heterotopia (MedGen UID: 375610) and cardiac vavlular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).

FLNC
Synonym(s): FLN2

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), and hypertrophic cardiomyopathy (PMID: 25351925, 28356264). Additionally, the FLNC gene has preliminary evidence supporting a correlation with autosomal dominant restrictive cardiomyopathy (PMID: 26666891).

FOXH1
Synonym(s): FAST-1; FAST1

FOXH1 is associated with autosomal dominant heterotaxy, which includes congenital heart disease such as tetralogy of Fallot, as well as extracardiac laterality defects (PMID: 18538293). Additionally, the FOXH1 gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 18538293).

G
GAA
Synonym(s): LYAG

The GAA gene is associated with autosomal recessive glycogen storage disease type II (GSDII), also known as Pompe disease (MedGen UID: 5340).

GATA4
Synonym(s): ASD2; TACHD; TOF; VSD1

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (MedGen UID: 21498), ventricular septal defects (MedGen UID: 482407), atrial septal defects (MedGen UID: 334249), atrioventricular septal defects (MedGen UID: 482411). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700).

GATA6

The GATA6 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), atrial septal defects (MedGen UID: 482573), atrioventricular septal defects (MedGen UID: 482569), persistent truncus arteriosus (MIM: 217095), congenital heart defects with pancreatic agenesis (MIM: 600001), and dilated cardiomyopathy (DCM) (PMID: 25119427).

GATAD1

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).

GDF1
Synonym(s): DORV; DTGA3; RAI

The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).

GDF2

The GDF2 gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 507345). In addition, there is preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (PAH) (PMID: 26801773).

GJA1
Synonym(s): AVSD3; CMDR; CX43; EKVP; GJAL; HLHS1; HSS; ODDD; PPKCA

The GJA1 gene is associated with autosomal dominant forms of hypoplastic left heart syndrome (MedGen UID: 57746), atrioventricular septal defect (MedGen UID: 342900), oculodentodigital dysplasia (MedGen UID: 167236), and syndactyly type 3 (MedGen UID: 396117), as well as autosomal recessive craniometaphyseal dysplasia (MedGen UID: 387837).

GJA5

The GJA5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial standstill (MedGen UID: 333120), atrial fibrillation (MedGen UID: 481323), and tetrology of Fallot (PMID: 22713807).

GLA
Synonym(s): GALA

The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).

GMPPB
Synonym(s): MDDGA14; MDDGB14; MDDGC14

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). Additionally, the GMPPB gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNE
Synonym(s): DMRV; GLCNE; IBM2; NM; Uae1

The GNE gene is associated with autosomal recessive GNE-related myopathy (MedGen UID: 322174) and autosomal dominant sialuria (MedGen UID: 137980).

GPC3
Synonym(s): DGSX; GTR2-2; MXR7; OCI-5; SDYS; SGB; SGBS; SGBS1

The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).

GPD1L

The GPD1L gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 382031).

H
HAMP

The HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).

HAND1
Synonym(s): bHLHa27; eHand; Hxt; Thing1

The HAND1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypoplastic left heart syndrome, atrioventricular septal defects and ventricular septal defects (PMID: 19586923, 18276607, 22032825).

HCN4

The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517), Brugada syndrome (BrS) (MedGen UID: 413928), and sinus node dysfunction or bradycardia (MedGen UID: 320273).

HFE

The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HH) (MedGen UID: 140272).

HFE2

The HFE2 gene is associated with autosomal recessive hemochromatosis type 2A (aka juvenile hemochromatosis) (MedGen UID: 356321).

HNRNPDL

The HNRNPDL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (PMID: 24647604).

HRAS
Synonym(s): C-BAS/HAS; C-H-RAS; C-HA-RAS1; CTLO; H-RASIDX; HAMSV; HRAS1; p21ras; RASH1

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454). Other HRAS-related conditions have been reported (OMIM).

I
ILK

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).

ISPD
Synonym(s): hCG_1745121; MDDGA7; MDDGC7; Nip

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 807556).

ITGA7

The ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).

J
JAG1
Synonym(s): AGS; AHD; AWS; CD339; HJ1; JAGL1

The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).

JPH2

The JPH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614).

JUP
Synonym(s): CTNNG

The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).

K
KBTBD13

The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095).

KCNA5

The KCNA5 gene is associated with autosomal dominant atrial fibrillation (MedGen UID: 393658). Additionally, the KCNA5 gene has preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (PAH) (PMID: 24936649).

KCND3
Synonym(s): SCA19; SCA22

The KCND3 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528) and atrial fibrillation (PMID: 23400760). Other KCND3-related condtions have been reported (OMIM: 605411).

KCNE1

The KCNE1 gene is associated with autosomal dominant long QT syndrome (LQTS) type 5 (MedGen UID: 358092) and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 394108).

KCNE2

The KCNE2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 6 (MedGen UID: 462303). Additionally, the KCNE2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (Pubmed ID: 15368194).

KCNE3

The KCNE3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 413473) and atrial fibrillation (PMID: 18209471).

KCNE5
Synonym(s): KCNE1L

The KCNE5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked Brugada syndrome (BrS) (PMID: 21493962) and atrial fibrillation (PMID: 18313602).

KCNH2
Synonym(s): ERG-1; ERG1; H-ERG; HERG; HERG1; Kv11.1; LQT2; SQT1

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293), short QT syndrome (SQTS) (MedGen UID: 355891) and Brugada syndrome (BrS) (MedGen UID: 222975).

KCNJ2

The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586), short QT syndrome (SQTS) (MedGen UID: 400662), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (PMID: 22589293). Additionally, the KCNJ2 gene has preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 462781).

KCNJ5

The KCNJ5 gene is associated with autosomal dominant familial hyperaldosteronism (MedGen UID: 462283). Additionally, the KCNJ5 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 13 (MedGen UID: 462083).

KCNJ8

The KCNJ8 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). Additionally, the KCNJ8 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528).

KCNK3

The KCNK3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (PAH).

KCNQ1
Synonym(s): KCNA9; LQT

The KCNQ1 gene is associated with autosomal dominant long QT syndrome (LQTS) type 1 (MedGen UID: 19831), atrial fibrillation (MedGen UID: 373232), short QT syndrome (SQTS) (MedGen UID: 355890), and autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS) (MedGen UID: 5929).

KCNQ2
Synonym(s): BFNC; EBN; EBN1; ENB1; HNSPC; KCNA11; KV7.2

The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and early infantile epileptic encephalopathy (MedGen UID: 462336).

KCNQ3
Synonym(s): BFNC2; EBN2; KV7.3

The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707).

KCNT1
Synonym(s): bA100C15.2; EIEE14; ENFL5; KCa4.1; SLACK; Slo2.2

The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and early infantile epileptic encephalopathy (MedGen UID: 767109).

KLHL40
Synonym(s): KBTBD5

The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).

KLHL41
Synonym(s): KBTBD10

The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).

KRAS
Synonym(s): C-K-RAS; c-Ki-ras2; CFC2; K-RAS2A; K-RAS2B; K-RAS4A; K-RAS4B; KI-RAS; KRAS1; KRAS2; NS; NS3; RALD; RASK2

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931) and cardiofaciocutaneous (CFC) syndrome (MedGen UID: 501102). Other KRAS-related conditions have been reported (OMIM).

L
LAMA2
Synonym(s): LAMM

The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).

LAMA4

The LAMA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 815265).

LAMP2
Synonym(s): CD107b; LAMP-2; LAMPB; LGP110

The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).

LARGE1
Synonym(s): LARGE; MDC1D; MDDGA6; MDDGB6

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).

LDB3
Synonym(s): CMD1C; ZASP

The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 322840). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction (LVNC) (MedGen UID: 349005).

LDLR

The LDLR gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 5688). Generally, the presence of two pathogenic variants is associated with a severe form of FH commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437).

LDLRAP1

The LDLRAP1 gene is associated with autosomal recessive hypercholesterolemia (MedGen UID: 400313).

LEFTY2
Synonym(s): EBAF; LEFTA; LEFTYA; TGFB4

The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).

LIMS2

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 (PMID: 25589244).

LMNA
Synonym(s): CMD1A; LGMD1B; LMN1; LMNL1; PRO1

The LMNA gene is associated with a diverse group of disorders affecting skeletal and cardiac muscle including autosomal recessive and dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2) (MedGen UID: 98048) and type 3 (EDMD3) (MedGen UID: 413212), autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 320400), autosomal dominant congenital muscular dystrophy (MedGen UID: 413043), autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 258500) and autosomal dominant familial partial lipodystrophy (FPLD2)(MedGen UID:354526). It is also associated with autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Additional LMNA-related conditions have also been reported (OMIM: 150330).

LMOD3

The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 830573).

LRRC10

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).

M
MAP2K1
Synonym(s): CFC3; MAPKK1; MEK1; MKK1; PRKMK1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

MAP2K2
Synonym(s): CFC4; MAPKK2; MEK2; MKK2; PRKMK2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501103).

MAT2A

The MAT2A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant thoracic aortic aneurysms (PMID: 25557781).

MATR3
Synonym(s): ALS21; MPD2; VCPDM

The MATR3 gene is associated with autosomal dominant distal myopathy 2 (MPD2) (MedGen UID: 342950). In addition, the MATR3 gene has preliminary evidence for a correlation with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (PMID: 26493020, 25771394, 24686783).

MED12
Synonym(s): ARC240; CAGH45; FGS1; HOPA; MED12S; OHDOX; OKS; OPA1; TNRC11; TRAP230

The MED12 gene is associated with X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805). Additionally, the MED12 gene has preliminary evidence supporting a correlation with X-linked recessive intellectual disability (ID) (PMID: 26273451, 25644381).

MED13L
Synonym(s): MRFACD; PROSIT240; THRAP2; TRAP240L

The MED13L gene is associated with autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).

MEGF10

The MEGF10 gene is associated with autosomal recessive early-onset myopathy, areflexia, respiratory distress and dysphasia (EMARDD) (MedGen UID: 482309).

MEIS2
Synonym(s): HsT18361; MRG1

The MEIS2 gene is associated with an autosomal dominant condition causing facial clefting, cardiac septal defects, and varying degrees of intellectual disability (PMID: 24678003, 20425846, 25712757).

MTM1

The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).

MTO1

The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency (MedGen UID: 766443).

MYBPC3
Synonym(s): CMH4

The MYBPC3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 350526), dilated cardiomyopathy (DCM) (MedGen UID: 2880), and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).

MYF6
Synonym(s): Herculin

The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 3 (CNM3) (MedGen UID: 482333).

MYH11

The MYH11 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 338704).

MYH6
Synonym(s): alpha-MHC; ASD3; CMD1EE; CMH14; MYHC; MYHCA; SSS3

The MYH6 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant atrial septal defects (MedGen UID:371845), hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484), and dilated cardiomyopathy (DCM) (MedGen UID: 412965). Additional MYH6-related conditions have been reported (OMIM: 160710).

MYH7
Synonym(s): CMH1; MPD1

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).

MYL2

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).

MYL3

The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806).

MYL4
Synonym(s): ALC1; AMLC; GT1; MLC1

The MYL4 gene is associated with autosomal recessive and autosomal dominant atrial fibrillation (PMID: 2580728, 27066836).

MYLK

The MYLK gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 462427).

MYLK2

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).

MYOM1

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).

MYOT
Synonym(s): LGMD1; LGMD1A; TTID

The MYOT gene is associated autosomal dominant myofibrillar myopathy 3 (MFM3) (MedGen UID: 322957) and limb-girdle muscular dystrophy type 1A (LGMD1A) (MedGen UID: 331802). Other MYOT-related conditions have been reported (OMIM: 604103).

MYOZ2
Synonym(s): C4orf5

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).

MYPN
Synonym(s): CMD1DD; CMH22; MYOP; RCM4

The MYPN gene is associated with autosomal recessive nemaline myopathy (PMID:28017374). Additionally, the MYPN gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 490120), hypertrophic cardiomyopathy (HCM) (OMIM: 615248), and restrictive cardiomyopathy RCM (OMIM: 615248).

N
NEB
Synonym(s): NEM2

The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534).

NEBL

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).

NEXN

The NEXN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617).

NF1
Synonym(s): NFNS; VRNF; WSS

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013). Additionally, evidence of varying degrees suggests a possible association between the NF1 gene and several cancer types (PMID: 23257896, 23165953, 25130111, 20833335).

NKX2-5
Synonym(s): CHNG5; CSX; CSX1; HLHS2; NKX2.5; NKX2E; NKX4-1; VSD3

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).

NKX2-6
Synonym(s): CSX2; CTHM; NKX2F; NKX4-2

The NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).

NODAL
Synonym(s): HTX5

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).

NOTCH1
Synonym(s): AOS5; AOVD1; hN1; TAN1

The NOTCH1 gene is associated with autosomal dominant aortic valve disorder (MedGen UID: 226776) and Adams-Oliver syndrome (MedGen UID: 807523).

NPPA
Synonym(s): ANP; PND

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).

NR2F2
Synonym(s): ARP1; CHTD4; COUPTFB; COUPTFII; NF-E3; NR2F1; SVP40; TFCOUP2

The NR2F2 gene is associated with autosomal dominant congenital heart defects (MedGen UID: 777001) and heterotaxy (MedGen UID: 336609).

NRAS
Synonym(s): ALPS4; CMNS; N-ras; NCMS; NRAS1; NS6

The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028).

NSD1
Synonym(s): ARA267; KMT3B; SOTOS; SOTOS1; STO

The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).

O
P
P3H1
Synonym(s): GROS1; LEPRE1; OI8

The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).

PCDH19
Synonym(s): EFMR; EIEE9

The PCDH19 gene is associated with X-linked early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813).

PCSK9
Synonym(s): HCHOLA3

The PCSK9 gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 355007). The presence of two pathogenic variants is associated with a severe form of FH commonly referred to as homozygous FH (HoFH) (MedGen UID: 468437).

PDLIM3

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).

PKP2

The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205), Brugada syndrome (PMID: 24352520) and dilated cardiomyopathy (DCM) (PMID: 20716751).

PLEC
Synonym(s): EBS1; PLEC1

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 347335), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), epidermolysis bullosa simplex with myasthenic syndrome (EBSMS) (PMID: 21263134), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). It is also associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

PLEKHM2
Synonym(s): KIAA0842; SKIP

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).

PLN
Synonym(s): PLB

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).

PLOD1
Synonym(s): LH1; LLH; PLOD

The PLOD1 gene is associated with autosomal recessive Ehlers-Danlos syndrome, kyphoscoliotic form (MedGen UID: 75672).

PNPLA2

The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).

POMGNT1
Synonym(s): GnT I.2; gnT-I.2; GNTI.2; LGMD2O; MDDGA3; MDDGB3; MDDGC3; MEB; MGAT1.2

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).

POMGNT2
Synonym(s): AGO61; C3orf39; GTDC2; MDDGA8

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727).

POMK
Synonym(s): MDDGA12; MDDGC12; SGK196

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 808099).

POMT1
Synonym(s): LGMD2K; MDDGA1; MDDGB1; MDDGC1; RT

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).

POMT2
Synonym(s): LGMD2N; MDDGA2; MDDGB2; MDDGC2

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).

PRDM16

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).

PRKAG2

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).

PRKG1
Synonym(s): PRKG1B; PRKGR1B

The PRKG1 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 815843).

PRRT2
Synonym(s): BFIC2; BFIS2; DSPB3; DYT10; EKD1; FICCA; ICCA; IFITMD1; PKC

The PRRT2 gene is associated with a spectrum of related autosomal dominant neurological conditions (MedGen UID: 358268, 381313) including episodic kinesigenic dyskinesia 1 (EKD1), benign familial infantile seizures 2 (BFIS2), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA).

PTPN11
Synonym(s): BPTP3; CFC; JMML; METCDS; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP2

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 22527), Noonan syndrome with multiple lentigines (NSML)(MedGen UID: 442308), and metachondromatosis (MedGen UID: 98377).

Q
R
RAF1
Synonym(s): c-Raf; CMD1NN; CRAF; NS5; Raf-1

The RAF1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 370589), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588), and dilated cardiomyopathy (MedGen UID: 807537).

RANGRF

The RANGRF gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 24142675).

RASA1
Synonym(s): CM-AVM; CMAVM; GAP; p120; p120GAP; p120RASGAP; PKWS; RASA; RASGAP

The RASA1 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM)(MedGen UID: 334007) and Parkes Weber syndrome (MedGen UID: 442305).

RBM20

The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).

RIT1
Synonym(s): NS8; RIBB; RIT; ROC1

The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID 506991).

RRAS
Synonym(s): P23

The RRAS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 26446362, 24705357).

RYR1
Synonym(s): CCO; MHS; MHS1

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), and autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775). It is also associated with autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 799613) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 833963). The RYR1 gene also has preliminary evidence supporting a correlation with periodic paralysis (PMID: 29298851).

RYR2
Synonym(s): ARVD2

The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513), arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 318748) and left ventricular noncompaction (LVNC) (PMID: 24394973).

S
SCN10A

The SCN10A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant small fiber neuropathy (SFNP) (PMID: 23986244) and Brugada syndrome (BrS) (PMID: 24998131).

SCN1A
Synonym(s): EIEE6; FEB3; FEB3A; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI

The SCN1A gene is associated with a spectrum of autosomal dominant SCN1A-related 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). Other SCN1A-related conditions have been reported (OMIM: 607208).

SCN1B
Synonym(s): ATFB13; BRGDA5; GEFSP1

The SCN1B gene is associated with autosomal dominant genetic epilepsy with febrile seizures (GEFS+) (MedGen UID: 348994). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), cardiac conduction disease (PMID: 18464934) and autosomal recessive early infantile epileptic encephalopathy (PMID: 19710327).

SCN2B

The SCN2B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 23559163) and atrial fibrillation (MedGen UID: 334469).

SCN3B

The SCN3B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 413472) and atrial fibrillation (MedGen UID: 334469).

SCN4B

The SCN4B gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 10 (MedGen UID: 394836) and atrial fibrillation (MedGen UID: 334469).

SCN5A
Synonym(s): CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1

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). Other SCN5A-related conditions have been reported (OMIM: 600163).

SCN8A
Synonym(s): BFIS5; CERIII; CIAT; EIEE13; MED; NaCh6; Nav1.6; PN4

The SCN8A gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 482821).

SCN9A
Synonym(s): ETHA; FEB3B; GEFSP7; HSAN2D; Nav1.7; NE-NA; NENA; PN1; SFNP

The SCN9A gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus (MedGen UID: 416629) and primary erythermalgia, which has clinical overlap with small fiber neuropathy (MedGen UID: 8688). 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). Other SCN9A-related conditions have also been reported (OMIM: 603415).

SDHA
Synonym(s): CMD1GG; FP; PGL5; SDH1; SDH2; SDHF

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndromes (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401).

SELENON
Synonym(s): CFTD; MDRS1; RSMD1; RSS; SELN; SEPN1

The SELENON gene (formerly known as SEPN1) is associated with autosomal recessive multiminicore disease (MmD) (MedGen UID: 388775) and autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

SEMA3E
Synonym(s): coll-5; M-SEMAH; M-SemaK; SEMAH

The SEMA3E gene has limited evidence supporting a correlation with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

SGCA
Synonym(s): ADL

The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 334108).

SGCB
Synonym(s): LGMD2E

The SGCB gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E) (MedGen UID: 347674).

SGCD
Synonym(s): 35DAG; CMD1L; DAGD; SG-delta; SGCDP; SGD

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).

SGCG
Synonym(s): DMDA1; LGMD2C; MAM

The SGCG gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) (MedGen UID: 98045).

SHOC2
Synonym(s): SIAA0862; SOC2; SUR8

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 334697).

SKI

The SKI gene is associated with autosomal dominant Shprintzen-Goldberg syndrome (MedGen UID: 231160).

SLC22A5
Synonym(s): CDSP; OCTN2

The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).

SLC2A1
Synonym(s): CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN

The SLC2A1 gene is associated with autosomal dominant glucose transporter type 1 (GLUT1) deficiency syndrome (PMID: 19304421, 15132717, 23443458).

SLC2A10

The SLC2A10 gene is associated with autosomal recessive arterial tortuosity syndrome (MedGen UID: 347942).

SLC39A13

The SLC39A13 gene is associated with autosomal recessive Ehlers-Danlos syndrome-like spondylocheirodysplasia (SCD-EDS) (MedGen UID: 393515).

SLC40A1
Synonym(s): SLC11A3

The SLC40A1 gene is associated with autosomal dominant hemochromatosis type 4 (HFE4) (aka ferroportin disease) (MedGen UID: 340044).

SLMAP

The SLMAP gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 23064965).

SMAD3
Synonym(s): MADH3

The SMAD3 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 468423) and Loeys-Dietz syndrome (LDS) (MedGen UID: 462437).

SMAD4
Synonym(s): DPC4; JIP; MADH4; MYHRS

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518) and hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400).

SMAD6
Synonym(s): AOVD2; HsT17432; MADH6; MADH7

The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease type 2 (AOVD2) (MedGen UID: 762200) and syndromic structural heart defects (PMID: 22275001).

SMAD9
Synonym(s): MADH6; MADH9

The SMAD9 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (MedGen UID: 57749).

SNTA1
Synonym(s): SNT1

The SNTA1 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 12 (MedGen UID: 442824).

SOS1
Synonym(s): GF1; GGF1; GINGF; HGF; NS4

The SOS1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 339908).

SOS2
Synonym(s): NS9; SOS-2

The SOS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 851638; PMID: 26173643, 25795793, 26446362).

SPRED1
Synonym(s): hSpred1; NFLS; PPP1R147; spred-1

The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).

SQSTM1
Synonym(s): A170; FTDALS3; OSIL; p60; p62; p62B; PDB3; ZIP3

The SQSTM1 gene is associated with autosomal dominant Paget disease of bone (PDB3) (MedGen UID: 865274). Additionally, the SQSTM1 gene has preliminary evidence supporting a correlation with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 850710). Other SQSTM1-related conditions have been reported (OMIM: 601530).

STAC3

The STAC3 gene is associated with autosomal recessive Native American myopathy (NAM) (MedGen UID: 340586).

STIM1
Synonym(s): D11S4896E; GOK; IMD10; STRMK; TAM; TAM1

The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 98050), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).

SUN1

The SUN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).

SUN2

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).

SYNE1
Synonym(s): C6orf98

The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 4 (EDMD4) (MedGen UID: 414476).

SYNE2

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).

T
TAZ
Synonym(s): Barth syndrome; BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1

The TAZ gene is associated with X-linked Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893), and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

TBX1
Synonym(s): CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS

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.

TBX5
Synonym(s): HOS

The TBX5 gene is associated with autosomal dominant Holt-Oram syndrome (MedGen UID: 120524).

TCAP
Synonym(s): CMD1N; LGMD2G; T-cap; TELE; telethonin

The TCAP gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895) and autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TCAP gene has preliminary evidence supporting a correlation with hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

TFR2

The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).

TGFB2

The TGFB2 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) type 4 (MedGen UID: 766676).

TGFB3
Synonym(s): ARVD; ARVD1

The TGFB3 gene is associated with autosomal dominant Rienhoff syndrome (MedGen UID: 816342) and arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 349530).

TGFBR1
Synonym(s): ESS1; MSSE

The TGFBR1 gene is associated with autosomal dominant thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423), Loeys-Dietz syndrome (LDS) (MedGen UID: 395828), and multiple self-healing squamous epithelioma (MedGen UID: 154270).

TGFBR2
Synonym(s): MFS2

The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) type 1B (MedGen UID: 390653) and thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 468423).

TIA1

The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441).

TMEM43

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).

TMEM5
Synonym(s): HP10481; MDDGA10

The TMEM5 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).

TMEM70
Synonym(s): MC5DN2

The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).

TMPO

The TMPO 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).

TNNC1
Synonym(s): TNNC

The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649) and dilated cardiomyopathy (DCM) (MedGen UID: 395631).

TNNI3
Synonym(s): CMD2A

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).

TNNT1

The TNNT1 gene is associated with autosomal recessive nemaline myopathy 5 (NEM5) (MedGen UID: 344273).

TNNT2
Synonym(s): CMD1D; CMH2

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).

TNPO3
Synonym(s): LGMD1F

The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983).

TOR1AIP1

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).

TPM1
Synonym(s): C15orf13; CMH3

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).

TPM2
Synonym(s): AMCD1

The TPM2 gene is associated with autosomal dominant nemaline myopathy 4 (NEM4) (MedGen UID: 324513) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177). Other TPM2-related conditions have been reported (OMIM: 190990).

TPM3
Synonym(s): NEM1

The TPM3 gene is associated with autosomal dominant and recessive nemaline myopathy 1 (NEM1) (MedGen UID: 373089) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

TRAPPC11
Synonym(s): C4orf41; LGMD2S

The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).

TRDN

The TRDN gene is associated with autosomal recessive long QT syndrome (LQTS) (PMID: 25922419) and catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513).

TRIM32
Synonym(s): BBS11; HT2A; LGMD2H; TATIP

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). Additionally, the TRIM32 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (PMID: 26586575).

TRPM4

The TRPM4 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 21887725; PMID: 20301690).

TTN
Synonym(s): CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J; MYLK5; TMD

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 (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).

TTR
Synonym(s): CTS1; PALB

The TTR gene is associated with autosomal dominant transthyretin amyloidosis (MedGen UID: 414031).

TXNRD2

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).

U
V
VCL

The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).

VCP
Synonym(s): ALS14; CMT2Y; HEL-220; HEL-S-70; IBMPFD; IBMPFD1; p97; TERA

The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 (IBMPFD1) (MedGen UID: 322251) and autosomal dominant amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) (MedGen UID: 462753).

W
X
Y
Z
ZFPM2
Synonym(s): DIH3; FOG2; hFOG-2; SRXY9; ZC2HC11B; ZNF89B

The ZFPM2 gene is associated with diaphragmatic hernia (MedGen UID: 347546). Additionally, the ZFPM2 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 21919901, 20807224, 17309641).

ZIC3
Synonym(s): HTX; HTX1; VACTERLX; ZNF203

The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 326815) and X-linked recessive heterotaxy (MedGen UID: 336609).