Cardiology

up to 168 genes

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

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Analyzes genes that are associated with primary arrhythmia and/or cardiomyopathy, as well as syndromic causes of cardiomyopathy.

up to 17 genes

Invitae Long QT Syndrome Panel

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Analyzes genes that are associated with long QT syndrome (LQTS), an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

7 genes

Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel

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Analyzes genes that are associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), an arrhythmia that can cause fainting and/or cardiac arrest.

up to 6 genes

Invitae Short QT Syndrome Panel

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Analyzes genes that are associated with short QT syndrome (SQTS), an arrhythmia that can cause fainting, seizure-like episodes, or cardiac arrest.

up to 80 genes

Invitae Arrhythmia Comprehensive Panel

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Analyzes genes that are associated with 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).

up to 20 genes

Invitae Brugada Syndrome Test

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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.

up to 44 genes

Invitae Hypertrophic Cardiomyopathy Panel

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Analyzes genes that are associated with hypertrophic cardiomyopathy (HCM), a cardiomyopathy defined by the presence of unexplained left ventricular hypertrophy and can cause chest pain, heart failure, or cardiac arrest.

up to 80 genes

Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

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Analyzes genes that are associated with dilated cardiomyopathy (DCM) or left ventricular noncompaction (LVNC).

1 gene

Invitae Hereditary Transthyretin-mediated amyloidosis (hATTR 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.

28 genes

Invitae RASopathies and Noonan Spectrum Disorders Panel

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The Invitae RASopathies and Noonan Spectrum Disorders Panel analyzes genes that belong to the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway, which is associated with a class of pediatric conditions termed “RASopathies” (also known as Noonan Spectrum Disorders). RASopathies are characterized by short stature, distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies. These genes were selected based on the available evidence to date to provide a broad analysis for inherited RASopathies and related conditions.

up to 121 genes

Invitae Cardiomyopathy Comprehensive Panel

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Analyzes genes that are associated with cardiomyopathy, a broad group of conditions characterized by an enlarged, stiff or weakened heart muscle.

up to 27 genes

Invitae Arrhythmogenic Cardiomyopathy Panel

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Analyzes genes that are associated with arrhythmogenic cardiomyopathy, including arrhythmogenic right ventricular cardiomyopathy (ARVC) and arrhythmogenic forms of dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).

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.

28 genes

Invitae RASopathies and Noonan Spectrum Disorders Panel

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The Invitae RASopathies and Noonan Spectrum Disorders Panel analyzes genes that belong to the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway, which is associated with a class of pediatric conditions termed “RASopathies” (also known as Noonan Spectrum Disorders). RASopathies are characterized by short stature, distinctive facial features, heart defects, developmental delay, and an increased risk of malignancies. These genes were selected based on the available evidence to date to provide a broad analysis for inherited RASopathies and related conditions.

55 genes

Invitae Congenital Heart Disease Panel

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Analyzes genes that are 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.

6 genes

Invitae Hereditary Hemorrhagic Telangiectasia and Vascular Malformations Panel

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Analyzes genes that are associated with hereditary hemorrhagic telangiectasia (HHT), a vascular dysplasia resulting in abnormalities of arterial and venous vessels; and capillary malformation-arteriovenous malformation (CM-AVM) syndrome, a vascular disorder characterized by capillary malformations, which generally are present at birth, and may also include arteriovenous malformations, arteriovenous fistulas, or Parkes-Weber syndrome.

4 genes

Invitae Familial Hypercholesterolemia Panel

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Analyzes genes that are associated with familial hypercholesterolemia (FH), an inherited condition causing elevated low-density lipoprotein cholesterol (LDL-C).

up to 36 genes

Invitae Comprehensive Lipidemia Panel

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Analyzes genes that are associated with inherited lipidemias, a group of conditions causing abnormal lipid levels.

up to 14 genes

Invitae Pulmonary Arterial Hypertension Panel

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Analyzes genes that are associated with pulmonary arterial hypertension (PAH), hypertension featuring fatigue, palpitations, edema, and heart failure.

up to 35 genes

Invitae Aortopathy Comprehensive Panel

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Analyzes genes which cause aortopathy, presenting as isolated thoracic aortic aneurysms and dissections (TAAD) or as a syndrome.

7 genes

Invitae Loeys-Dietz Syndrome Panel

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Genetic testing for genes that cause Loeys-Dietz syndrome (LDS) and related conditions.

17 genes

Invitae Ehlers-Danlos Syndrome Panel

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

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.

Gene
A
A2ML1

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).

ABCA1

The ABCA1 gene is associated with autosomal recessive Tangier disease (MedGen UID: 52644). Additionally, the ABCA1 gene has preliminary evidence supporting a correlation with autosomal dominant high-density lipoprotein (HDL) deficiency (MedGen UID: 352844).

ABCC9

The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647). Additionally, the ABCC9 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24439875), dilated cardiomyopathy (DCM) (MedGen UID: 325268), and atrial fibrillation (MedGen UID: 334469), and autosomal recessive Intellectual disability and Myopathy Syndrome (PMID: 31575858).

ABCG5

The ABCG5 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).

ABCG8

The ABCG8 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).

ACADVL

The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).

ACTA1

The ACTA1 gene is associated with a spectrum of autosomal dominant and recessive congenital myopathies including nemaline myopathy 3 (NEM3) (MedGen UID: 777997) and congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM# 102610).

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 (MedGen UID: 462551).

ACTB

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494). Additionally, the ACTB gene has preliminary evidence supporting a correlation with an autosomal dominant syndrome involving intellectual disability, behavioral and skeletal abnormalities, and microcephaly (PMID: 29220674, 31898838).

ACTC1

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).

ACTG1

The ACTG1 gene is associated with autosomal dominant deafness (MedGen UID: 346852) and Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 482865).

ACTN2

The ACTN2 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) with or without left ventricular noncompaction (LVNC) (MedGen UID: 393713), autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), and autosomal dominant congenital myopathy with multiple structured cores (MedGen UID: 1684705). Additionally, the ACTN2 gene has preliminary evidence supporting a correlation with distal myopathy (MedGen UID: 1684760).

ACVR2B

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

ACVRL1

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

ADAMTS10

The ADAMTS10 gene is associated with autosomal recessive Weill-Marchesani syndrome (WMS) (MedGen UID: 358270).

ADAMTS2

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

AGL

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

AKAP9

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) and autosomal dominant hypertrophic cardiomyopathy (PMID: 28750076).

ALMS1

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

ALPK3

The ALPK3 gene is associated with autosomal recessive dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) (PMID: 26846950, 27106955). Additionally, the ALPK3 gene has preliminary evidence supporting a correlation with autosomal dominant HCM (PMID: 26846950).

ANGPTL3

The ANGPTL3 gene is associated with autosomal recessive familial hypobetalipoproteinemia type 2 (FHBL2) (MedGen UID: 341895).

ANK2

The ANK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 4 (MedGen UID: 331449), autism spectrum disorder (PMID: 22542183, 25356970), and other arrhythmias (MedGen UID: 370181).

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

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

APOA1

The APOA1 gene is associated with autosomal recessive apolipoprotein A-I (apo A-I) deficiency (MedGen UID: 945224) and autosomal dominant systemic amyloidosis (MedGen UID: 82799).

APOA4

The APOA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with familial hyperlipidemia (PMID: 8956036).

APOA5

The APOA5 gene is associated with autosomal dominant hypertriglyceridemia (MedGen UID: 9365) and autosomal recessive hypertriglyceridemia (PMID: 28951076, 23151256).

APOB

The APOB gene is associated with autosomal dominant familial hypercholesterolemia (FH) (MedGen UID: 309962) or familial hypobetalipoproteinemia (FHBL) (MedGen UID: 1639219). 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.

APOC2

The APOC2 gene is associated with autosomal recessive apolipoprotein C-II (apo C-II) deficiency (MedGen UID: 328375), also known as familial chylomicronemia syndrome.

APOC3

The APOC3 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant apolipoprotein C3 deficiency/hyperalphalipoproteinemia 2 (MedGen UID: 462817), amyloidosis (PMID: 26790392) and hypertriglyceridemia (PMID: 9323592).

AQP1

The AQP1 gene is associated with autosomal dominant pulmonary arterial hypertension (PMID: 29650961).

ARIH1

The ARIH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (PMID: 29689197).

ATP13A3

The ATP13A3 is associated with autosomal dominant pulmonary arterial hypertension (MedGen UID: 57749).

ATP2A1

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

ATP7A

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

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

B3GALT6

The B3GALT6 gene is associated with a spectrum of autosomal recessive conditions with features of both spondyloepimetaphyseal dysplasia (MedGen UID: 98148) and Ehlers-Danlos syndrome (MedGen UID: 815540).

B4GALT7

The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 1 (MedGen UID: 1646889).

B4GAT1

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), myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119) and Charcot-Marie-Tooth disease type 2 (PMID: 28754666).

BCOR

The BCOR gene is associated with spectrum including X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547) and an X-linked recessive severe microphthalmia syndrome (PubMed: 29974297).

BGN

The BGN gene is associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 376281) and X-linked thoracic aortic aneurysm and dissection (TAAD), with or without additional features, also known as Meester-Loeys syndrome (MedGen UID: 934778).

BIN1

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

BMPR1B

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

BMPR2

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

BRAF

The BRAF gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).

C
CACNA1C

The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8 (MedGen UID: 331395). The CACNA1C gene has also been associated with a combination of LQTS, hypertrophic cardiomyopathy (HCM) and congenital heart defects (PMID: 26253506). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).

CACNA1D

The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).

CACNA2D1

The CACNA2D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 20817017), short QT syndrome (SQTS) (PMID: 21383000), epilepsy (PMID: 25877686), and neurodevelopmental disorders (PMID: 28097321).

CACNB2

The CACNB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant short QT syndrome (SQTS) (MedGen UID: 378835) and Brugada syndrome (PMID: 22840528).

CALM1

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 catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS) (PMID: 25460178, 27516456).

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

The CAPN3 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391) and autosomal dominant limb-girdle muscular dystrophy type 4 (LGMDD4) (MedGen UID: 1648316).

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).

CASZ1

The CASZ1 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 811656) and dilated cardiomyopathy (DCM) (MedGen UID: 462643).

CAV1

The CAV1 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749) and familial partial lipodystrophy (MedGen UID: 354526).

CAV3

The CAV3 gene is associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 482073), and autosomal dominant and recessive limb-girdle muscular dystrophy type 1C (LGMD1C) (MedGen UID: 371358) and rippling muscle disease (MedGen UID: 342944), collectively known as the caveolinopathies (MedGen UID: 433151). Additionally, the CAV3 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).

CBL

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).

CBS

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

CCDC78

The CCDC78 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).

CDH2

The CDH2 gene is associated with autosomal dominant agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects (ACOG) syndrome (PMID: 31585109). Additionally, the CDH2 gene has preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 87618).

CETP

The CETP gene is associated with hyperalphalipoproteinemia (MedGen UID: 460812). Hyperalphalipoproteinemia refers to elevated high-density lipoprotein (HDL) cholesterol. Unlike low-density lipoprotein (LDL), HDL is non-atherogenic and it does not contribute to fatty plaque development in the arteries. It has been suggested that moderately elevated HDL may have a protective effect against cardiovascular disease, although data is limited and emerging (PMID: 30869791). Genetic predisposition to hyperalphalipoproteinemia does not preclude the need for management of atherosclerotic risk counseling based on other factors, such as smoking, diabetes, weight, age, and/or family history (PMID: 30586774, 28342064).

CFL2

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

CHD7

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).

CHKB

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

The CHST14 gene 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). The COL12A1 gene is also associated with autosomal dominant and recessive myopathic Ehlers-Danlos syndrome (PMID: 28306229).

COL1A1

The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome (MedGen UID: 1645042, 977637), and Caffey disease (PMID: 24389367). Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).

COL1A2

The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359) and autosomal recessive osteogenesis imperfecta (PMID: 29572562).

COL3A1

The COL3A1 gene is associated with autosomal dominant vascular Ehlers-Danlos syndrome (EDS, type 4) (MedGen UID: 82790) and autosomal recessive polymicrogyria with or without vascular EDS (MedGen UID: 1675672).

COL5A1

The COL5A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660). Additionally, the COL5A1 gene has preliminary evidence supporting a correlation with autosomal dominant keratoconus (PMID: 22924831).

COL5A2

The COL5A2 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660). Additional, there is preliminary evidence supporting a correlation with congenital heart defects (PMID: 28991257)

COL6A1

The COL6A1 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 893286), 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: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 893286), collectively known as type VI collagenopathies (MedGen UID: 468393). Additionally, the COL6A3 gene is associated with autosomal recessive dystonia 27 (DYT27) (MedGen UID: 907580).

CPT2

The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).

CREB3L3

The CREB3L3 gene is associated with autosomal dominant hypertriglyceridemia (PMID: 21666694, 26427795).

CRELD1

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

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

CRYAB

The CRYAB gene is associated with autosomal dominant and recessive cataracts (MedGen UID: 814707). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563).

CSRP3

The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). Additionally, the CSRP3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 334498) and autosomal recessive hypertrophic cardiomyopathy (PMID: 30012424).

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).

CYP27A1

The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).

CYP7A1

The CYP7A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypercholesterolemia (PMID: 12093894).

D
DAG1

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

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 dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998). Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351).

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 3B (CMD3B) (MedGen UID: 777148).

DNAJB6

The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 1648441).

DNAJC19

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 (CNM1) (MedGen UID: 322437) and dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).

DOLK

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

DPM1

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

DPM2

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

DPM3

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

DSC2

The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237). Additionally, the DSC2 gene has preliminary evidence supporting a correlation with autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).

DSG2

The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543). Additionally the DSG2 gene has preliminary evidence supporting a correlation with dilated cardiomyopathy (DCM) (MedGen UID: 414552) and autosomal recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 28818065, 23381804).

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).

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

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

The EFEMP2 gene is associated with autosomal recessive cutis laxa type 1B (ARCL1B) (MedGen UID: 482428) and thoracic aortic aneurysms and dissections (TAAD) (PMID: 22440127).

EIF2AK4

The gene EIF2AK4 is associated with autosomal recessive pulmonary veno-occlusive disease (MedGen UID: 90956) and pulmonary arterial hypertension (PMID: 28972005).

ELAC2

The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 17 (COXPD17) (MedGen UID: 815856, 1668540).

ELN

The ELN gene is associated with autosomal dominant supravalvular 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

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 468373). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (MedGen UID: 87518).

EPHB4

The EPHB4 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM) (MedGen UID: 1648502) and hydrops fetalis, nonimmune, and/or atrial septal defect (MedGen UID: 934596).

EYA4

The EYA4 gene is associated with autosomal dominant deafness with or without dilated cardiomyopathy (MedGen UID: 321966). Additional EYA4-related conditions have been reported (OMIM: 603550).

F
FBN1

The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysm and aortic dissection (MedGen UID: 1644766), isolated ectopia lentis (MedGen UID: 762106), stiff skin syndrome (MedGen UID: 348877), Weill-Marchesani syndrome 2 (MedGen UID: 358388), geleophysic dysplasia 2 (MedGen UID: 481684), acromicric dysplasia (MedGen UID: 78549) and Marfan lipodystrophy syndrome (MedGen UID: 934763).

FBN2

The FBN2 gene is associated with autosomal dominant congenital contractural arachnodactyly (MedGen UID: 67391). Additionally, the FBN2 gene has preliminary evidence supporting a correlation with autosomal dominant macular degeneration (MedGen UID 863723).

FHL1

The FHL1 gene is associated with a spectrum of X-linked myopathies including myopathy with postural muscle atrophy (XMPMA), also known as Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathy (RBM) (MedGen UIDs: 904593, 906731) and scapuloperoneal myopathy (SPM) (MedGen UID: 395530). The FHL1 gene is also associated with X-linked hypertrophic cardiomyopathy (PMID: 24114807).

FHL2

The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 28416588, 17416452).

FKBP14

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

FKRP

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).

FKTN

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).

FLNA

The FLNA gene is associated with X-linked periventricular heterotopia (MedGen UID: 376309) with or without Ehlers-Danlos features (MedGen UID: 375610) or interstitial lung disease (ILD) (PMID: 28898549), otopalatodigital spectrum disorders (MedGen UID: 433163), congenital short bowel syndrome (MedGen UID: 412536), and cardiac valvular dysplasia (MedGen UID: 78083). Other FLNA-related conditions have also been reported (OMIM: 300017).

FLNC

The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), dilated cardiomyopathy (PMID: 25633252, 27908349), hypertrophic cardiomyopathy (PMID: 25351925, 28356264), and restrictive cardiomyopathy (PMID: 26666891).

FOXE3

The FOXE3 gene is associated with autosomal recessive congenital primary aphakia [CPA] (MedGen UID: 339935) and autosomal dominant anterior segment mesenchymal dysgenesis [ASMD] (MedGen UID: 350766) and thoracic aortic aneurysm and/or dissection (TAAD) (MedGen UID: 1377970).

FOXH1

The FOXH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214) and autosomal dominant congenital heart disease, including tetralogy of Fallot and heterotaxy (PMID: 18538293, 32003456).

G
GAA

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

GALNT2

The GALNT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with variation in high density lipoprotein cholesterol (HDLc) levels (PMID: 27508872).

GATA4

The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).

GATA5

The GATA5 gene is associated with autosomal dominant atrial fibrillation (PMID: 22483626). Additionally, the GATA5 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 23289003).

GATA6

The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).

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).

GCKR

The GCKR gene has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant glucokinase regulatory protein (GKRP) deficiency; which can contribute to hypercholesterolemia and/or hypertriglyceridemia (HGT) (PMID: 25692341).

GDF1

The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF1 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: 816040) and autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749). In addition, there is preliminary evidence supporting a correlation with autosomal recessive pulmonary arterial hypertension (PAH) (PMID: 26801773) and autosomal recessive lymphatic dysplasia (PMID: 32618121).

GJA1

The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).

GJA5

The GJA5 gene is associated with autosomal dominant atrial fibrillation (MedGen UID: 334469). Additionally, the GJA5 gene has preliminary evidence supporting a correlation with autosomal dominant tetrology of Fallot (PMID: 22713807).

GLA

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

GMPPB

The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507), and autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).

GNE

The GNE gene is associated with autosomal dominant sialuria (MedGen UID: 137980) and autosomal recessive GNE-related myopathy (MedGen UID: 381298).

GPC3

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

GPD1

The GPD1 gene is associated with autosomal recessive transient infantile hypertriglyceridemia (MedGen UID: 482583).

GPD1L

The GPD1L gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 17967977).

GPIHBP1

The GPIHBP1 is associated with autosomal recessive hyperlipoproteinemia type 1D (MedGen UID: 863204), also known as familial chylomicronemia syndrome.

GYS1

The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).

H
HAMP

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

HAND1

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).

HAND2

The HAND2 gene is associated with autosomal dominant ventricular septal defects (VSD) and tetralogy of Fallot (TOF) (PMID: 26865696, 26676105). Additionally, the HAND2 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 30217752).

HCN4

The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517) and sinus node dysfunction or bradycardia (MedGen UID: 320273). Some individuals with LVNC and/or arrhythmia are also reported to have aortic disease (PMID: 31731876). Additionally, the HCN4 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 22840528).

HFE

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

HJV

The HJV gene (formerly known as HFE2) is associated with autosomal recessive hemochromatosis type 2A (HFE2A), also known as juvenile hemochromatosis (MedGen UID: 356321).

HNRNPDL

The HNRNPDL gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3) (MedGen UID: 322993).

HRAS

The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).

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

The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532). The ISPD gene is also known as the CRPPA gene.

ITGA7

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

J
JAG1

The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434), tetralogy of Fallot (MedGen UID: 21498), and Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 32065591). Additionally, the JAG1 gene has preliminary evidence supporting a correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 31273345).

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

JUP

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
KAT6B

The KAT6B gene is associated with autosomal dominant genitopatellar syndrome (GPS) (MedGen UID: 381208) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (MedGen UID: 350209).

KBTBD13

The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095). Additionally, the KBTBD13 gene has preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (PMID: 28403181).

KCNA1

The KCNA1 gene is associated with autosomal dominant episodic ataxia type 1 (EA1) (MedGen UID: 318554) and epilepsy with or without ataxic episodes (PMID: 30055040, 11026449, 10355668).

KCNA5

The KCNA5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 393658) and pulmonary arterial hypertension (PAH) (PMID: 24936649).

KCND3

The KCND3 gene is associated with autosomal dominant spinocerebellar ataxia 19 (SCA19) (MedGen UID: 339504). In addition, KCND3 has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528) and atrial fibrillation (PMID: 23400760).

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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 6 (MedGen UID: 462303).

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

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

The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293) and short QT syndrome (SQTS) (MedGen UID: 355891). Additionally, the KCNH2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24400717).

KCNJ2

The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586) and short QT syndrome (SQTS) (MedGen UID: 400662).

KCNJ5

The KCNJ5 gene is associated with autosomal dominant familial hyperaldosteronism, type 3 (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 is associated with autosomal dominant pulmonary arterial hypertension (MedGen UID: 1643124). Additionally, the KCNK3 gene has preliminary evidence supporting a correlation with atrial fibrillation (PMID: 24374141).

KCNQ1

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

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

KCNQ3

The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707), and autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 29383681, 23020937, 2393411).

KCNT1

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

KDM6A

The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 477126).

KIF20A

The KIF20A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive restrictive cardiomyopathy (PMID: 29357359).

KLF10

The KLF10 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with hypertrophic cardiomyopathy (PMID: 22234868).

KLHL40

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

KLHL41

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

KMT2D

The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 893727) and a multiple malformations disorder (PMID: 31949313). Additionally, the KMT2D gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 57501) and with autosomal dominant holoprosencephaly (PMID: 31282990).

KRAS

The KRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102) and Costello syndrome (PMID: 17056636, 17468812).

L
LAMA2

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

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

LARGE1

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).

LCAT

The LCAT gene is associated with autosomal recessive lecithin-cholesterol acyltransferase (LCAT) deficiency (MedGen UID: 1435006), Norum disease (MedGen UID: 9698), and Fish-eye disease (MedGen UID: 83354).

LDB3

The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 1648314). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 316944) and left ventricular noncompaction (LVNC) (PMID: 28798025).

LDLR

The LDLR gene is associated with familial hypercholesterolemia (FH) (MedGen UID: 5688). Heterozygous FH (HeFH) results from one pathogenic variant, while homozygous FH (HoFH) is a more severe presentation caused by the presence of homozygous or compound heterozygous pathogenic variants.

LDLRAP1

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

LEFTY2

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 (MedGen UID: 897675).

LIPA

The LIPA gene is associated with autosomal recessive lysosomal acid lipase (LAL) deficiency (MedGen UID: 53088).

LIPC

The LIPC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hepatic lipase deficiency (MedGen UID: 462816; PMID: 1883393, 1671786).

LIPG

The LIPG gene is associated with elevated high-density lipoprotein cholesterol levels (PMID: 23536757, 23243195, 19287092, 20926433). Hyperalphalipoproteinemia refers to elevated high-density lipoprotein (HDL) cholesterol. Unlike low-density lipoprotein (LDL), HDL is non-atherogenic and it does not contribute to fatty plaque development in the arteries. It has been suggested that moderately elevated HDL may have a protective effect against cardiovascular disease, although data is limited and emerging (PMID: 30869791). Genetic predisposition to hyperalphalipoproteinemia does not preclude the need for management of atherosclerotic risk counseling based on other factors, such as smoking, diabetes, weight, age, and/or family history (PMID: 30586774, 28342064).

LIPI

The LIPI gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant hypertriglyceridemia (MedGen UID: 9365).

LMF1

The LMF1 gene is associated with autosomal recessive combined lipase deficiency (MedGen UID: 340886), also known as familial chylomicronemia syndrome.

LMNA

The LMNA gene is associated with a spectrum of distinct and overlapping conditions collectively termed the laminopathies. Laminopathies which primarily affect the striated muscles include autosomal dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2), sometimes referred to as limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 98048), congenital muscular dystrophy (CMD) (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500), along with autosomal recessive Emery-Dreifuss muscular dystrophy type 3 (EDMD3) (MedGen UID: 413212). Laminopathies which primarily affect the peripheral nervous system include autosomal recessive Charcot-Marie-Tooth disease type 2B1 (CMT2B1) (MedGen UID: 343064). Syndromic laminopathies affecting multiple systems include autosomal dominant and recessive lipodystrophy (MedGen UID: 354526, 1684630) and Hutchinson-Gilford progeria syndrome (HGPS) (MedGen UID: 46123). Other conditions have also been reported (OMIM: 150330).

LMOD3

The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 863797).

LOX

The LOX gene is associated with autosomal dominant thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 924785).

LPL

The LPL gene is associated with autosomal recessive lipoprotein lipase (LPL) deficiency (MedGen UID:7352), also known as familial chylomicronemia syndrome.

LRP6

The LRP6 gene is associated with autosomal dominant coronary artery disease (MedGen UID: 370259) and tooth agenesis (MedGen UID: 899184).

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).

LTBP3

The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1615724) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659). There is preliminary evidence for supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (TAAD) (PMID: 29625025).

LZTR1

The LZTR1 gene is associated with autosomal dominant schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan spectrum disorders (NSDs) (MedGen UID: 902892, OMIM: 605275).

M
MAP2K1

The MAP2K1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815336).

MAP2K2

The MAP2K2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815337).

MAP3K8

The MAP3K8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Noonan syndrome (PMID: 25049390).

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

The MATR3 gene is associated with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (MedGen UID: 813851), also known as distal myopathy 2 (MPD2).

MED12

The MED12 gene is associated with X-linked dominant Hardikar syndrome (PMID: 33244166) and X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805), and syndromic intellectual disability (ID) (PMID: 30006928).

MED13L

The MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924). Additionally, the MED13L gene has preliminary evidence supporting a correlation with heterotaxy (PMID: 27959697, 14638541).

MEGF10

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

MEIS2

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).

MESP1

The MESP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (PMID: 26694203, 28677747).

MFAP5

The MFAP5 gene is associated with autosomal dominant thoracic aortic aneurysms and dissection (TAAD) (MedGen UID: 863805).

MRAS

The MRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 943628).

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 10 (COXPD10) (MedGen UID: 766443).

MTTP

The MTTP gene is associated with autosomal recessive abetalipoproteinemia (MedGen UID: 1253).

MYBPC3

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

The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy (PMID: 11053684).

MYH11

The MYH11 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 338704) and autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) (PMID: 29575632). Additionally, the MYH11 gene has preliminary evidence supporting a correlation with autosomal dominant chronic intestinal pseudo-obstruction (CIPO) (PMID: 31944481).

MYH6

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

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) and autosomal recessive restrictive cardiomyopathy (RCM) (PMID: 12021217).

MYL4

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

MYLIP

The MYLIP gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant lipidemia (PMID: 23324548).

MYLK

The MYLK gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 462427) and autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) (PMID: 28602422).

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).

MYLK3

The MYLK3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 29235529).

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

The MYOT gene is associated with a spectrum of autosomal dominant neuromuscular conditions including myofibrillar myopathy 3 (MFM3) (MedGen UID: 811509), formerly known as limb-girdle muscular dystrophy type 1A (LGMD1A), and spheroid body myopathy (MedGen UID: 401082). Additionally, the MYOT gene has preliminary evidence supporting a correlation with autosomal recessive myofibrillar myopathy (PMID: 24928145).

MYOZ2

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

The MYPN gene is associated with autosomal recessive nemaline myopathy 11 (NEM11) (MedGen UID: 1384302). Additionally, the MYPN gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (CMD1KK) (MedGen UID: 811544), hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) (PMID: 18006477, 22286171, 22892539).

N
NEB

The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534). Additionally, the NEB gene has preliminary evidence supporting a correlation with autosomal dominant nemaline myopathy (PMID: 30679003).

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), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617), and left ventricular noncompaction cardiomyopathy (PMID: 28798025, 30471092).

NF1

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089) and Watson syndrome (MedGen UID: 107817).

NFATC1

The NFATC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with congenital heart disease (PMID: 30007050, 28979898, 25260786) and Evans syndrome (MedGen UID: 75773).

NKX2-5

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

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

NODAL

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

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

NPPA

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

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

NRAS

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

NSD1

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

NSUN2

The NSUN2 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 370849). Additionally, the NSUN2 gene has preliminary evidence supporting a correlation with autosomal recessive Noonan-like syndrome (PMID: 24102521, 26055038).

O
P
P3H1

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

PCCA

The PCCA gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).

PCCB

The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).

PCDH19

The PCDH19 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813). Males with somatic mosaicism have been reported to be affected with a similar phenotype to reported females (PMID: 28462982, 28669061, 26765483).

PCSK9

The PCSK9 gene is associated with familial hypercholesterolemia (FH) (MedGen UID: 355007). Heterozygous FH (HeFH) results from one pathogenic variant, while homozygous FH (HoFH) is a more severe presentation caused by the presence of homozygous or compound heterozygous pathogenic variants.

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) and dilated cardiomyopathy (DCM) (PMID: 20716751). Additionally, the PKP2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24352520).

PLD1

The PLD1 gene is associated with autosomal recessive congenital valve defects (MedGen UID: 349143). Additionally, the PLD1 gene has preliminary evidence supporting a correlation with autosomal dominant neurodevelopmental defects (PMID: 27513193).

PLEC

The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 418981), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). Additionally, the c.5998C>T (p.Arg2000Trp) variant in PLEC is associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).

PLEKHM2

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

The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782) and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313). Additionally, the PLN gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615) and left ventricular noncompaction (LVNC) (PMID: 20530761).

PLOD1

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

PLOD3

The PLOD3 gene is associated with autosomal recessive lysyl hydroxylase-3 (LH3) deficiency (MedGen UID: 1634321).

PLTP

The PLTP gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive ataxia with vitamin E deficiency (MedGen UID: 341248) and autosomal dominant lipidemia (PMID: 17303779).

PNPLA2

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

POMGNT1

The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671).

POMGNT2

The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727) and type C8 (MDDGC8) (MedGen UID: 1648468).

POMK

The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 863621).

POMT1

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

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).

PPA2

The PPA2 gene is associated with autosomal recessive sudden cardiac failure (MedGen UID: 934631).

PPCS

The PPCS gene is associated with autosomal recessive dilated cardiomyopathy (MedGen UID: 940825).

PPP1CB

The PPP1CB gene is associated with autosomal dominant Noonan syndrome-like disorder with loose anagen hair (MedGen UID: 1376945).

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

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

PRRT2

The PRRT2 gene is associated with a spectrum of clinically overlapping autosomal dominant neurological conditions including episodic kinesigenic dyskinesia 1 (EKD1) (MedGen UID: 1636366), benign familial infantile seizures 2 (BFIS2) (MedGen UID: 381313), and familial infantile convulsions with paroxysmal choreoathetosis (ICCA) (MedGen UID: 356123).

PTPN11

The PTPN11 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 1638960), Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694), and metachondromatosis (MedGen UID: 98377).

Q
R
RAF1

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: 863093).

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

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

RASA2

The RASA2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 25049390).

RBFOX2

The RBFOX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (PMID: 26785492).

RBM20

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

RIT1

The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 815563).

ROBO1

The ROBO1 gene is associated with autosomal recessive congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 29194579) and autosomal dominant pituitary stalk interruption syndrome (MedGen UID: 883774). Additionally, the ROBO1 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 28592524).

RRAS

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

RRAS2

The RRAS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 1684730).

RXYLT1

The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).

RYR1

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: 340597). It is also associated with autosomal recessive and autosomal dominant centronuclear myopathy (CNM) (MedGen UID: 808163) and malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 443948). The RYR1 gene also has preliminary evidence supporting a correlation with periodic paralysis (PMID: 29298851).

RYR2

The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513), arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 318748). Additionally, the RYR2 gene has preliminary evidence supporting a correlation with left ventricular noncompaction (LVNC) (PMID: 24394973).

S
SAR1B

The SAR1B gene is associated with autosomal recessive chylomicron retention disease (CMRD) (MedGen UID: 208651).

SCARB1

The SCARB1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with elevated levels of high-density lipoprotein (HDL) (MedGen UID: 343969).

SCN10A

The SCN10A gene is associated with autosomal recessive neuromuscular disease and epileptic encephalopathy (PMID: 28078312, 26757139). Additionally, the SCN10A gene has preliminary evidence supporting a correlation with autosomal dominant familial episodic pain syndrome type 2 (FEPS2) (MedGen UID: 816223), Brugada syndrome (BrS) (PMID: 24998131), and congenital abnormalities of the kidney and urinary tract (PMID: 29992996).

SCN1A

The SCN1A gene is associated with a spectrum of autosomal dominant seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). The SCN1A gene is also associated with autosomal dominant familial hemiplegic migraine 3 (FHM3) (MedGen UID: 400655) and autosomal dominant arthrogryposis multiplex congenita (AMC) (PMID: 32928894).

SCN1B

The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1376462). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), and cardiac conduction disease (PMID: 18464934).

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), atrial fibrillation (MedGen UID: 334469) and sick sinus syndrome (MedGen UID: 20749).

SCN5A

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

The SCN8A gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 482821), benign familial neonatal seizures (MedGen UID: 934695), and familial myoclonus 2 (MYOCL2) (MedGen UID: 1683864).

SCN9A

The SCN9A gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 503203), primary erythromelalgia (MedGen UID: 8688), small fiber neuropathy (SFNP) (MedGen UID: 416701), and paroxysmal extreme pain disorder (PEXPD) (MedGen UID: 331565). The SCN9A gene is also associated with autosomal recessive congenital indifference to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563).

SDHA

The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), gastrointestinal stromal tumors (GIST) (PMID: 21505157, 22974104, 23060355), and autosomal dominant and autosomal recessive mitochondrial complex II deficiency with or without cardiomyopathy (MedGen UID: 344401, PMID: 10976639, 27683074, 28724664). Studies suggest SDHA may also be associated with autosomal dominant susceptibility to renal cancer (PMID: 26722403, 25034258). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

SELENON

The SELENON gene (formerly known as SEPN1) is associated with a spectrum of autosomal recessive congenital myopathies including rigid spine muscular dystrophy 1 (RSMD1) (MedGen UID: 98047) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).

SEMA3E

The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).

SGCA

The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 424706).

SGCB

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

SGCD

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

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

SHOC2

The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 1379805).

SKI

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

SLC22A5

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

SLC2A1

The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412).

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 (EDS), spondylodysplastic type 3 (MedGen UID: 393515).

SLC40A1

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

SMAD2

The SMAD2 gene is associated with autosomal dominant Loeys-Dietz syndrome (PMID: 29392890, 26247899) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (PMID: 26247899). Additionally, the SMAD2 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 23665959).

SMAD3

The SMAD3 gene is associated with autosomal dominant Loeys-Dietz syndrome 3 (LDS3) (MedGen UID: 462437) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 1644766).

SMAD4

The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518), hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400) and Myhre syndrome (MedGen UID: 167103).

SMAD6

The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease (MedGen UID: 762200), craniosynostosis (MedGen UID: 1392447), and syndromic structural heart defects (PMID: 22275001).

SMAD9

The SMAD9 gene is associated with autosomal dominant pulmonary arterial hypertension (MedGen UID: 1643124). Additionally, the SMAD9 gene has preliminary evidence supporting a correlation with autosomal dominant brain arteriovenous malformation (MedGen UID: 214590).

SNTA1

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

The SOS1 gene is associated with autosomal dominant Noonan spectrum disorders (MedGen UID: 339908) and hereditary gingival fibromatosis (PMID: 11868160).

SOS2

The SOS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 896352).

SOX17

The SOX17 gene is associated with autosomal dominant pulmonary arterial hypertension (PMID: 29650961, 24418654). Additionally, the SOX17 gene has preliminary evidence supporting a correlation with autosomal dominant vesicoureteral reflux (MedGen UID: 462277).

SPRED1

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

SQSTM1

The SQSTM1 gene is associated with a spectrum of overlapping autosomal dominant neurological conditions including Paget disease of bone 3 (PDB3) (MedGen UID: 895927), distal myopathy with rimmed vacuoles (DMRV) (MedGen UID: 893965), and frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 897127). The SQSTM1 gene is also associated with autosomal recessive neurodegeneration with ataxia, dystonia and gaze palsy (NADGP) (MedGen UID: 934660).

STAC3

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

STIM1

The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 860163), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).

SUN1

The SUN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive myoclonic atonic epilepsy (PMID: 31170314) and Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).

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

The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973) and myogenic-type arthrogryposis multiplex congenita 3 (AMC3) (MedGen UID: 1680655). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 4 (EDMD4) (MedGen UID: 414476) and dilated cardiomyopathy (PMID: 19944109, 17761684).

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
TAB2

The TAB2 gene is associated with autosomal dominant polyvalvular syndrome (MedGen UID: 767193, PMID: 28386937). Additionally, the TAB2 gene has preliminary evidence supporting a correlation with autosomal dominant frontometaphyseal dysplasia (PMID: 28498505).

TAZ

The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005).

TBX1

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.

TBX20

The TBX20 gene is associated with a variety of autosomal dominant congenital heart defects with, or without, dilated cardiomyopathy (PMID: 17668378, 26118961, 28553164).

TBX4

The TBX4 gene is associated with autosomal dominant ischiocoxopodopatellar syndrome (ICPPS) with or without pulmonary arterial hypertension (MedGen UID: 333474). Additionally, the TBX4 gene has preliminary evidence supporting a correlation with autosomal recessive posterior amelia with pelvis and pulmonary hypoplasia (PMID: 31761294) and autosomal dominant acinar dysplasia (PMID: 30639323).

TBX5

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

TCAP

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).

TFAP2B

The TFAP2B gene is associated with autosomal dominant Char syndrome (MedGen UID: 358356).

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 4 (LDS4) (MedGen UID: 766676) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 850745).

TGFB3

The TGFB3 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) (MedGen UID: 816342). Additionally, the TGFB3 gene has preliminary evidence supporting a correlation with autosomal dominant nonsyndromic thoracic aortic aneurysm and/or dissection (MedGen UID: 879960).

TGFBR1

The TGFBR1 gene is associated with autosomal dominant nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766), Loeys-Dietz syndrome 1 (LDS1) (MedGen UID: 1646567), and multiple self-healing squamous epithelioma (MSSE) (MedGen UID: 154270).

TGFBR2

The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome 2 (LDS2) (MedGen UID: 382398) and nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766).

TIA1

The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441). Additionally, the TIA1 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 26 (ALS26) (MedGen UID: 977766).

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).

TMEM70

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 high myopia (MedGen UID: 78759) and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

TNNC1

The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442487) and dilated cardiomyopathy (DCM) (MedGen UID: 395631).

TNNI3

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). Additionally, the TNNI3 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (PMID: 30279906).

TNNI3K

The TNNI3K gene is associated with autosomal dominant atrial arrhythmia, cardiac conduction disease and dilated cardiomyopathy (PMID: 24925317, 25791106).

TNNT1

The TNNT1 gene is associated with autosomal recessive nemaline myopathy 5 (NEM5) (MedGen UID: 344273). Additionally, the TNNT1 gene has preliminary evidence supporting a correlation with autosomal dominant nemaline myopathy (PMID: 29178646).

TNNT2

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

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

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

The TPM2 gene is associated with a spectrum of autosomal dominant neuromuscular conditions including nemaline myopathy 4 (NEM4) (MedGen UID: 324513), congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and distal arthrogryposis type 1A (DA1A) (MedGen UID: 113099). The TPM2 gene is also associated with autosomal recessive congenital myopathy (PMID: 19155175, 22798622).

TPM3

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

TRAPPC11

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 catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513) and long QT syndrome (LQTS) (PMID: 25922419).

TRIM32

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).

TRPM4

The TRPM4 gene is associated with autosomal dominant progressive familial heart block type 1B (MedGen UID: 370220) and progressive symmetric erythrokeratodermia (PMID: 30528822). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 21887725; PMID: 20301690) and long QT syndrome (LQTS) (PMID: 28315637), left ventricular noncompaction (PMID: 29748318) and sudden unexplained death (MedGen UID: 636245).

TTN

The TTN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TTN gene is associated with a diverse group of disorders affecting skeletal muscles, including autosomal dominant tibial muscular dystrophy (TMD) (MedGen UID: 333047) and autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) (MedGen UID: 324741), autosomal recessive centronuclear myopathy (CNM) (PMID: 23975875), and autosomal dominant hereditary myopathy with early respiratory failure (HMERF) (MedGen UID: 350930). Additional TTN-related conditions have also been reported (OMIM: 188840).

TTR

The TTR gene is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis (hATTR 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). Additionally, the VCL gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 23785128) and left ventricular noncompaction (PMID: 28798025).

VCP

The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) (MedGen UID: 1641069), frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) (MedGen UID: 462753), and Charcot-Marie-Tooth disease type 2Y (CMT2Y) (MedGen UID: 898987).

W
X
Y
YWHAZ

The YWHAZ gene is associated with autosomal dominant cardio-facio-cutaneous (CFC) syndrome (PMID: 31024343).

Z
ZFPM2

The ZFPM2 gene is associated with autosomal dominant diaphragmatic hernia (MedGen UID: 347546) and autosomal dominant disorders of sex development (MedGen UID: 863566) . Additionally, the ZFPM2 gene has preliminary evidence supporting a correlation with autosomal dominant tetralogy of Fallot (PMID: 21919901, 20807224, 17309641).

ZHX3

The ZHX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertriglyceridemia (PMID: 22135386).

ZIC3

The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 419019) and X-linked recessive heterotaxy (MedGen UID: 336609).