Invitae is a New York state approved clinical laboratory. The tests and genes on this page are approved or under conditional approval by New York State to be performed at Invitae and do not require a New York exemption form.
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).
The ABCA1 gene is associated with autosomal recessive Tangier disease (MedGen UID: 52644). Additionally, the ABCA1 gene has preliminary evidence supporting a correlation with autosomal dominant high-density lipoprotein (HDL) deficiency (MedGen UID: 352844).
The ABCC9 gene is associated with autosomal dominant Cantu syndrome (MedGen UID: 208647) and dilated cardiomyopathy (DCM) (MedGen UID: 325268). Additionally, the ABCC9 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24439875), atrial fibrillation (MedGen UID: 334469), and autosomal recessive intellectual disability and myopathy syndrome (PMID: 31575858).
The ABCG5 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).
The ABCG8 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).
The ACADVL gene is associated with autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (MedGen UID: 854382).
The ACTA1 gene is associated with a spectrum of autosomal dominant and recessive congenital myopathies including nemaline myopathy 3 (NEM3) (MedGen UID: 777997) and congenital fiber-type disproportion (CFTD) (MedGen UID: 108177). Other ACTA1-related disorders have also been reported (OMIM# 102610).
The ACTA2 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 435866). Other ACTA2-related conditions have been reported (MedGen UID: 462551).
The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494). Additionally, the ACTB gene has preliminary evidence supporting a correlation with an autosomal dominant syndrome involving intellectual disability, behavioral and skeletal abnormalities, and microcephaly (PMID: 29220674, 31898838).
The ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031), left ventricular noncompaction (LVNC) (MedGen UID: 349005) and distal arthrogryposis (MedGen UID: 120512).
The ACTG1 gene is associated with autosomal dominant deafness (MedGen UID: 346852) and Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 482865).
The ACTN2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), autosomal dominant congenital myopathy with multiple structured cores (MedGen UID: 1684705) and autosomal dominant left ventricular noncompaction (LVNC) (PMID: 33500567, 25173926, 34802252, 33859969, 33049752, 31568572). Additionally, the ACTN2 gene has preliminary evidence supporting a correlation with distal myopathy (PMID: 30900782), and autosomal dominant dilated cardiomyopathy (DCM) (PMID: 31983221).
The ACVR2B gene is associated with autosomal dominant heterotaxy, type 4 (MedGen UID: 462407).
The ACVRL1 gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 324960) and pulmonary arterial hypertension (PAH) (MedGen UID: 57749).
The ADAMTS10 gene is associated with autosomal recessive Weill-Marchesani syndrome (WMS) (MedGen UID: 358270).
The ADAMTS2 gene is associated with autosomal recessive Ehlers-Danlos syndrome type VIIC (EDS VIIC) (MedGen UID: 397792).
The AGL gene is associated with autosomal recessive glycogen storage disease type III (GSD III) (MedGen UID: 6641).
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).
The ALMS1 gene is associated with autosomal recessive Alström syndrome (MedGen UID: 78675).
The ALPK3 gene is associated with autosomal recessive dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) (PMID: 26846950, 27106955) and autosomal dominant HCM (PMID: 26846950, 34263907, 33191771).
The ANGPTL3 gene is associated with autosomal recessive familial hypobetalipoproteinemia type 2 (FHBL2) (MedGen UID: 341895).
The ANK2 gene is associated with an autosomal dominant neurodevelopmental disorder (PMID: 37195288). Additionally, the ANK2 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome (LQTS), type 4 (MedGen UID: 331449), and other arrhythmias (MedGen UID: 370181).
The ANKRD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880) and hypertrophic cardiomyopathy (HCM) (PMID: 19608031).
The ANO5 gene is associated with autosomal dominant gnathodiaphyseal dysplasia (GDD) (MedGen UID: 331575). The ANO5 gene is also associated with autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) (MedGen UID: 370102) and Miyoshi muscular dystrophy 3 (MMD3) (MedGen UID: 413750).
The APOA1 gene is associated with autosomal recessive apolipoprotein A-I (apo A-I) deficiency (MedGen UID: 945224) and autosomal dominant systemic amyloidosis (MedGen UID: 82799).
The APOA4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with familial hyperlipidemia (PMID: 8956036).
The APOA5 gene is associated with autosomal dominant hypertriglyceridemia (MedGen UID: 9365) and autosomal recessive hypertriglyceridemia (PMID: 28951076, 23151256).
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.
The APOC2 gene is associated with autosomal recessive apolipoprotein C-II (apo C-II) deficiency (MedGen UID: 328375), also known as familial chylomicronemia syndrome.
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).
The AQP1 gene is associated with autosomal dominant pulmonary arterial hypertension (PMID: 29650961).
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).
The ATP13A3 is associated with autosomal dominant and autosomal recessive pulmonary arterial hypertension (MedGen UID: 57749).
The ATP2A1 gene is associated with autosomal recessive Brody myopathy (MedGen UID: 371441).
The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).
The B3GALNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A11 (MDDGA11) (MedGen UID: 767552).
The B3GALT6 gene is associated with a spectrum of autosomal recessive conditions with features of both spondyloepimetaphyseal dysplasia (MedGen UID: 98148) and Ehlers-Danlos syndrome (MedGen UID: 815540).
The B4GALT7 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 1 (MedGen UID: 1646889).
The B4GAT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A13 (MDDGA13) (MedGen UID: 815372).
The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643), myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119) and Charcot-Marie-Tooth disease type 2 (PMID: 28754666).
The BCOR gene is associated with spectrum including X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547) and retinal dystrophy (PMID: 36070393). In addition, the BCOR gene has preliminary evidence supporting a correlation with an X-linked recessive severe microphthalmia syndrome (PubMed: 26694549).
The BGN gene is associated with X-linked spondyloepimetaphyseal dysplasia (SEMD) (MedGen UID: 376281) and X-linked thoracic aortic aneurysm and dissection (TAAD), with or without additional features, also known as Meester-Loeys syndrome (MedGen UID: 934778).
The BIN1 gene is associated with autosomal dominant and recessive centronuclear myopathy (MedGen UID: 98049).
The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 355199) and autosomal dominant brachydactyly (MedGen UID: 903193). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant pulmonary arterial hypertension (MedGen UID: 57749) and ocular coloboma (PMID: 35034853).
The BMPR2 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749).
The BRAF gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 462320), Noonan syndrome with Multiple Lentigines (NSML) (MedGen UID: 462321), and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 852267).
The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8, with or without neurodevelopmental features (MedGen UID: 331395). Additionally, the CACNA1C gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome and short QT syndrome (SQTS) (PMID: 17224476).
The CACNA1D gene is associated with autosomal recessive sinoatrial node dysfunction and deafness (MedGen UID: 766932) and autosomal dominant primary aldosteronism with seizures and neurologic abnormalities (PASNA) (MedGen UID: 815939). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25620733, 22495309, 22542183).
The 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), long QT syndrome (MedGen UID: 44193), epilepsy (PMID: 25877686), and neurodevelopmental disorders (PMID: 28097321).
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).
The CALM1 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 766961) and long QT syndrome (LQTS) (PMID: 23388215).
The CALM2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS) (PMID: 23388215).
The CALM3 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) and long QT syndrome (LQTS) (PMID: 25460178, 27516456).
The CALR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462616).
The CAPN3 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) (MedGen UID: 358391) and autosomal dominant limb-girdle muscular dystrophy type 4 (LGMDD4) (MedGen UID: 1648316).
The 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).
The CASZ1 gene is associated with autosomal dominant dilated cardiomyopathy (PMID: 28099117, 36293425). Additionally, the CASZ1 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (PMID: 27693370, 28641477, 32368696).
The CAV1 gene is associated with autosomal dominant pulmonary arterial hypertension (PAH) (MedGen UID: 57749) and familial partial lipodystrophy (MedGen UID: 354526).
The CAV3 gene is associated with a spectrum of neuromuscular conditions including autosomal dominant hyperCKemia (MedGen UID: 69128) and distal myopathy (MedGen UID: 482073), and autosomal dominant and recessive limb-girdle muscular dystrophy type 1C (LGMD1C) (MedGen UID: 371358) and rippling muscle disease (MedGen UID: 342944), collectively known as the caveolinopathies (MedGen UID: 433151). Additionally, the CAV3 gene has preliminary evidence supporting a correlation with autosomal dominant long QT syndrome type 9 (LQT9) (MedGen UID: 395635) and hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).
The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153), which is one of the RASopathies (MedGen UID: 1792298). Additionally, the CBL gene has preliminary evidence supporting a correlation with autosomal dominant cerebral arteriopathy (PMID: 32637631).
The CBS gene is associated with autosomal recessive homocystinuria due to cystathionine beta-synthase (CBS) deficiency (MedGen UID: 461694).
The CCDC78 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy 4 (CNM4) (MedGen UID: 766623).
The CDH2 gene is associated with autosomal dominant agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects (ACOG) syndrome (PMID: 31585109) and autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 1712001).
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).
The CFL2 gene is associated with autosomal recessive nemaline myopathy 7 (NEM7) (MedGen UID: 343979).
The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).
The CHKB gene is associated with autosomal recessive congenital muscular dystrophy, megaconial type (MDCMC) (MedGen UID: 355943).
The CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182).
The CHST14 gene is associated with autosomal recessive CHST14-congenital disorder of glycosylation, also known as musculocontractural type Ehlers-Danlos syndrome (MedGen UID 356497).
The CNTN1 gene is associated with autosomal recessive Compton-North congenital myopathy (MYPCN) (MedGen UID: 393406).
The COL12A1 gene is associated with autosomal dominant Bethlem myopathy 2 (BTHLM2) (MedGen UID: 907426) and autosomal recessive Ullrich congenital muscular dystrophy 2 (UCMD2) (MedGen UID: 899150). The COL12A1 gene is also associated with autosomal dominant and recessive myopathic Ehlers-Danlos syndrome (PMID: 28306229). Additionally, the COL12A1 gene has preliminary evidence supporting a correlation with autosomal dominant hypermobile Ehlers-Danlos syndrome (PMID: 32629534, 31273343).
The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome (MedGen UID: 1645042, 977637), and Caffey disease (PMID: 24389367). Additionally, the COL1A1 gene has preliminary evidence supporting a correlation with autosomal recessive Ehlers-Danlos syndrome (PMID: 27023906).
The COL1A2 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246) and Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662). The COL1A2 gene is also associated with autosomal recessive Ehlers-Danlos syndrome, cardiac valvular form (MedGen UID: 347359) and autosomal recessive osteogenesis imperfecta (PMID: 29572562).
The COL3A1 gene is associated with autosomal dominant vascular Ehlers-Danlos syndrome (EDS, type 4) (MedGen UID: 82790) and autosomal recessive polymicrogyria with or without vascular EDS (MedGen UID: 1675672).
The 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).
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).
The COL6A1 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393).
The COL6A2 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Other COL6A2-related disorders have also been reported (OMIM: 120240).
The COL6A3 gene is associated with autosomal dominant and recessive Bethlem myopathy 1 (BTHLM1) (MedGen UID: 893688) and Ullrich congenital muscular dystrophy 1 (UCMD1) (MedGen UID: 98046), collectively known as type VI collagenopathies (MedGen UID: 468393). Additionally, the COL6A3 gene is associated with autosomal recessive dystonia 27 (DYT27) (MedGen UID: 907580).
The CPT2 gene is associated with autosomal recessive carnitine palmitoyltransferase II (CPTII or CPT2) deficiency (MedGen UID: 371584, 322211, 318896). Additionally, the CPT2 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 19762733, 10873395).
The CREB3L3 gene is associated with autosomal dominant hypertriglyceridemia (PMID: 21666694, 26427795).
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).
The CRTAP gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 343981).
The CRYAB gene is associated with autosomal dominant and recessive cataracts (MedGen UID: 814707). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735). Additionally, the CRYAB gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 767563).
The CSRP3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649). Additionally, the CSRP3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 334498) and autosomal recessive hypertrophic cardiomyopathy (PMID: 30012424).
The CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912).
The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468).
The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).
The CYP7A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypercholesterolemia (PMID: 12093894).
The DAG1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A9 (MDDGA9) (MedGen UID: 851332) and type C9 (MDDGC9) (MedGen UID: 462534).
The DEPDC5 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 1641798) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) (MedGEN UID: 432274). It is also associated with autosomal recessive early-onset epilepsy with macrocephaly and bilateral polymicrogyria (PMID: 36067010).
The DES gene is associated with autosomal dominant and recessive myofibrillar myopathy 1 (MFM1) (MedGen UID: 330449). It is also associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 387998). Additionally, the DES gene has preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) (PMID: 23687351).
The DMD gene is associated with X-linked Duchenne Muscular Dystrophy (DMD) (MedGen UID: 3925), Becker Muscular Dystrophy (BMD) (MedGen UID: 182959) and dilated cardiomyopathy 3B (CMD3B) (MedGen UID: 777148).
The DNAJB6 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E), also known as LGMD1D (MedGen UID: 1648441).
The DNAJC19 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type V (MedGen UID: 347542).
The DNM2 gene is associated with autosomal dominant centronuclear myopathy (CNM1) (MedGen UID: 322437) and dominant intermediate Charcot-Marie-Tooth disease type B (CMTDIB) (MedGen UID: 338346). Additionally, the DNM2 gene has preliminary evidence supporting a correlation with autosomal recessive lethal congenital contracture syndrome 5 (LCCS5) (MedGen UID: 815602).
The DOLK gene is associated with the autosomal recessive congenital disorder of glycosylation DOLK-CDG (CDG-Im) (MedGen UID 332072).
The DPM1 gene is associated with autosomal recessive DPM1-congenital disorder of glycosylation (CDG-Ie) (MedGen UID: 324784).
The DPM2 gene is associated with autosomal recessive DPM2-congenital disorder of glycosylation (CDG-Iu) (MedGen UID: 767299).
The DPM3 gene is associated with autosomal recessive DPM3-congenital disorder of glycosylation (CDG-Io) (MedGen UID: 414534).
The DSC2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 351237). Additionally, the DSC2 gene has preliminary evidence supporting a correlation with autosomal recessive ARVC with palmoplantar keratoderma and woolly hair (OMIM: 125645).
The DSG2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 347543). Additionally the DSG2 gene has preliminary evidence supporting a correlation with dilated cardiomyopathy (DCM) (MedGen UID: 414552) and autosomal recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 28818065, 23381804).
The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and autosomal dominant dilated cardiomyopathy (DCM) with woolly hair, keratoderma and tooth agenesis (MedGen UID: 862830). The DSP gene is also associated with autosomal recessive DCM with woolly hair and keratoderma (MedGen UID: 340124) and autosomal recessive lethal acantholytic epidermolysis bullosa (LAEB) (MedGen UID: 400622).
The DTNA gene is associated with autosomal dominant muscular dystrophy (PMID: 36799992). Additionally, the DTNA gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005).
The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128), limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), and distal myopathy with anterior tibial onset (DMAT) (MedGen UID: 335706), collectively known as the dysferlinopathies (MedGen UID: 419874).
The EFEMP2 gene is associated with autosomal recessive cutis laxa type 1B (ARCL1B) (MedGen UID: 482428) and thoracic aortic aneurysms and dissections (TAAD) (PMID: 22440127).
The gene EIF2AK4 is associated with autosomal recessive pulmonary veno-occlusive disease (MedGen UID: 90956) and pulmonary arterial hypertension (PMID: 28972005).
The ELAC2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 17 (COXPD17) (MedGen UID: 815856, 1668540).
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).
The EMD gene is associated with X-linked Emery-Dreifuss muscular dystrophy type 1 (EDMD1) (MedGen UID: 148284).
The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 468373).
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).
The EYA4 gene is associated with autosomal dominant deafness with or without dilated cardiomyopathy (MedGen UID: 321966). Additional EYA4-related conditions have been reported (OMIM: 603550).
The FBN1 gene is associated with autosomal dominant Marfan syndrome (MedGen UID: 44287), MASS syndrome (MedGen UID: 346932), thoracic aortic aneurysm and aortic dissection (MedGen UID: 1644766), isolated ectopia lentis (MedGen UID: 762106), stiff skin syndrome (MedGen UID: 348877), Weill-Marchesani syndrome 2 (MedGen UID: 358388), geleophysic dysplasia 2 (MedGen UID: 481684), acromicric dysplasia (MedGen UID: 78549) and Marfan lipodystrophy syndrome (MedGen UID: 934763).
The FBN2 gene is associated with autosomal dominant congenital contractural arachnodactyly (MedGen UID: 67391) and autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (PMID: 29907982, 30739908). Additionally, the FBN2 gene has preliminary evidence supporting a correlation with autosomal dominant macular degeneration (MedGen UID 863723).
The FHL1 gene is associated with a spectrum of X-linked myopathies including myopathy with postural muscle atrophy (XMPMA), also known as Emery-Dreifuss muscular dystrophy type 6 (EDMD6) (MedGen UID: 395525), reducing body myopathy (RBM) (MedGen UIDs: 904593, 906731) and scapuloperoneal myopathy (SPM) (MedGen UID: 395530). The FHL1 gene is also associated with X-linked hypertrophic cardiomyopathy (PMID: 24114807).
The FHL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 28416588, 17416452).
The FKBP14 gene is associated with autosomal recessive Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) (MedGen UID: 482790).
The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580).
The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585).
The 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).
The FLNC gene is associated with autosomal dominant myofibrillar myopathy 5 (MFM5) (MedGen UID: 372186), distal myopathy 4 (MPD4) (MedGen UID: 481352), dilated cardiomyopathy (PMID: 25633252, 27908349), hypertrophic cardiomyopathy (PMID: 25351925, 28356264), and restrictive cardiomyopathy (PMID: 26666891).
The 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).
The FOXH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214) and autosomal dominant congenital heart disease, including tetralogy of Fallot and heterotaxy (PMID: 18538293, 32003456).
The FTH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hemochromatosis (MedGen UID: 507367).
The GAA gene is associated with autosomal recessive Pompe disease, also known as glycogen storage disease type II (GSDII) (MedGen UID: 5340).
The GALNT2 gene is associated with autosomal recessive GALNT2-congenital disorder of glycosylation (GALNT2-CDG) (MedGen UID: 1709627). Additionally, the GALNT2 gene has preliminary evidence supporting a correlation with variation in high density lipoprotein cholesterol (HDLc) levels (PMID: 22952570, 22152306).
The GATA4 gene is associated with a spectrum of congenital heart defects including autosomal dominant tetralogy of Fallot (TOF) (MedGen UID: 21498), ventricular septal defects (VSD) (MedGen UID: 482407), atrial septal defects (ASD) (MedGen UID: 334249), and atrioventricular septal defects (AVSD) (MedGen UID: 482411). The GATA4 gene is also associated with autosomal dominant atrial fibrillation (PMID: 21708142). Additionally, the GATA4 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 24041700), congenital diaphragmatic hernia (PMID: 23138528), and neonatal diabetes (PMID: 24696446).
The 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).
The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933) and autosomal dominant dilated cardiomyopathy (PMID: 25119427, 35962153). Additionally, there is preliminary evidence supporting a correlation with isolated congenital heart defects (PMID: 28991257), atrial fibrillation (PMID: 22257684) and diabetes mellitus (PMID: 23223019).
The GATAD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy (DCM) (MedGen UID: 766323).
The 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).
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).
The GDF2 gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 816040) and autosomal dominant pulmonary arterial hypertension (PAH) (PMID: 30578397). The presence of two pathogenic variants in GDF2 is associated with features of PAH and/or HHT (PMID: 33834622). In addition, the GDF2 gene has preliminary evidence supporting a correlation with autosomal recessive lymphatic dysplasia (PMID: 32618121).
The GJA1 gene is associated with autosomal dominant and recessive oculodentodigital dysplasia (ODDD) (MedGen UID: 167236) and autosomal dominant erythrokeratodermia variabilis et progressiva (EKVP) (MedGen UID: 1380593). Additionally, the GJA1 gene has preliminary evidence supporting a correlation with autosomal recessive craniometaphyseal dysplasia (MedGen UID: 419753), autosomal dominant syndactyly type 3 (MedGen UID: 396117), and autosomal dominant structural heart defects (PMID: 7715640).
The 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).
The GLA gene is associated with X-linked Fabry disease (MedGen UID: 8083).
The GMPPB gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A14 (MDDGA14) (MedGen UID: 815546), type B14 (MDDGB14) (MedGen UID: 815551) and type C14 (MDDGC14) (MedGen UID: 811507), and autosomal recessive congenital myasthenic syndrome (CMS) (PMID: 26133662).
The GNE gene is associated with autosomal dominant sialuria (MedGen UID: 137980) and autosomal recessive GNE-related myopathy (MedGen UID: 381298).
The GPC3 gene is associated with X-linked recessive Simpson-Golabi-Behmel syndrome (MedGen UID: 162917).
The GPD1 gene is associated with autosomal recessive transient infantile hypertriglyceridemia (MedGen UID: 482583).
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).
The GPIHBP1 is associated with autosomal recessive hyperlipoproteinemia type 1D (MedGen UID: 863204), also known as familial chylomicronemia syndrome.
The GYS1 gene is associated with autosomal recessive glycogen synthase deficiency, muscle type (GSD 0b, muscle form) (MedGen UID: 409741).
The HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).
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).
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).
The HCN4 gene is associated with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 25145517) and sinus node dysfunction or bradycardia (MedGen UID: 320273). Some individuals with LVNC and/or arrhythmia are also reported to have aortic disease (PMID: 31731876). Additionally, the HCN4 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 22840528).
The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HFE-HH) (MedGen UID: 140272).
The HJV gene (formerly known as HFE2) is associated with autosomal recessive hemochromatosis type 2A (HFE2A), also known as juvenile hemochromatosis (MedGen UID: 356321).
The HNRNPDL gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1G (LGMDD3) (MedGen UID: 322993).
The HRAS gene is associated with autosomal dominant Costello syndrome (MedGen UID: 108454).
The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580).
The ISPD gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A7 (MDDGA7) (MedGen UID: 766244) and type C7 (MDDGC7) (MedGen UID: 863532). The ISPD gene is also known as the CRPPA gene.
The ITGA7 gene is associated with autosomal recessive congenital muscular dystrophy due to integrin alpha-7 deficiency (MedGen UID: 413044).
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434), tetralogy of Fallot (MedGen UID: 21498), and Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 32065591). Additionally, the JAG1 gene has preliminary evidence supporting a correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 31273345).
The JPH2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462614). Additionally, the JPH2 gene has preliminary evidence supporting a correlation with dilated cardiomyopathy (DCM) (MedGen UID: 985833).
The JUP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 409749) and autosomal recessive Naxos disease (MedGen UID: 321991).
The KAT6B gene is associated with autosomal dominant genitopatellar syndrome (GPS) (MedGen UID: 381208) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) (MedGen UID: 350209).
The KBTBD13 gene is associated with autosomal dominant nemaline myopathy 6 (NEM6) (MedGen UID: 373095). Additionally, the KBTBD13 gene has preliminary evidence supporting a correlation with autosomal dominant limb-girdle muscular dystrophy (PMID: 28403181).
The KCNA1 gene is associated with autosomal dominant episodic ataxia type 1 (EA1) (MedGen UID: 318554) and autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 10355668, 11026449, 30055040).
The 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).
The KCND3 gene is associated with autosomal dominant spinocerebellar ataxia 19 (SCA19) (MedGen UID: 339504) and autosomal dominant early repolarization syndrome (MedGen UID: 462202). In addition, KCND3 has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (PMID: 22840528) and atrial fibrillation (PMID: 23400760).
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).
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).
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).
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).
The KCNH2 gene is associated with autosomal dominant long QT syndrome (LQTS), type 2 (MedGen UID: 462293) and short QT syndrome (SQTS) (MedGen UID: 355891). Additionally, the KCNH2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24400717).
The KCNJ2 gene is associated with autosomal dominant Andersen-Tawil syndrome, also known as long QT syndrome (LQTS), type 7 (MedGen UID: 327586) and short QT syndrome (SQTS) (MedGen UID: 400662).
The 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).
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).
The KCNK3 gene is associated with autosomal dominant pulmonary arterial hypertension (MedGen UID: 1643124) as well as an autosomal dominant neurodevelopmental disorder (PMID: 36195757). Additionally, the KCNK3 gene has preliminary evidence supporting a correlation with atrial fibrillation (PMID: 24374141).
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).
The KCNQ2 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 342266) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462336).
The KCNQ3 gene is associated with autosomal dominant benign familial neonatal seizures (MedGen UID: 377707), and autosomal dominant and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 29383681, 23020937, 2393411).
The KCNT1 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 767220) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 767109).
The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 477126).
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).
The KLF10 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with hypertrophic cardiomyopathy (PMID: 22234868).
The KLHL40 gene is associated with autosomal recessive nemaline myopathy 8 (NEM8) (MedGen UID: 815539).
The KLHL41 gene is associated with autosomal recessive nemaline myopathy 9 (NEM9) (MedGen UID: 816714).
The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 893727) and a multiple malformations disorder (PMID: 31949313). Additionally, the KMT2D gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 57501) and with autosomal dominant holoprosencephaly (PMID: 31282990).
The KRAS gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 349931), cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 501102), Costello syndrome (PMID: 17056636, 17468812), and mosaic RASopathy syndromes including oculoectodermal syndrome (OES), encephalo‐cranio‐cutaneous lipomatosis (ECCL), and Schimmelpenning‐ Feuerstein‐Mims syndrome (SFMS) (PMID: 25808193, 30891959).
The LAMA2 gene is associated with autosomal recessive LAMA2-related muscular dystrophy (LAMA2 MD) (MedGen UID: 468394).
The LAMA4 gene is associated with dilated cardiomyopathy (MedGen UID: 815265).
The LAMP2 gene is associated with X-linked Danon disease (MedGen UID: 209235).
The LARGE1 gene (formerly known as LARGE) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A6 (MDDGA6) (MedGen UID: 461764) and type B6 (MDDGB6) (MedGen UID: 373284).
The 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).
The LDB3 gene (formerly known as ZASP) is associated with autosomal dominant myofibrillar myopathy 4 (MFM4) (MedGen UID: 1648314). Additionally, the LDB3 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 316944) and left ventricular noncompaction (LVNC) (PMID: 28798025). The LDB3 gene is also associated with autosomal recessive dilated cardiomyopathy (DCM) (PMID: 36253531).
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.
The LDLRAP1 gene is associated with autosomal recessive familial hypercholesterolemia (MedGen UID: 400313).
The LEFTY2 gene is associated with autosomal dominant left-right axis malformations (also called LEFTY2-related heterotaxy; MedGen UID: 355624).
The LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (MedGen UID: 897675).
The LIPA gene is associated with autosomal recessive lysosomal acid lipase (LAL) deficiency (MedGen UID: 53088).
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).
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).
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).
The LMF1 gene is associated with autosomal recessive combined lipase deficiency (MedGen UID: 340886), also known as familial chylomicronemia syndrome.
The LMNA gene is associated with a spectrum of distinct and overlapping conditions collectively termed the laminopathies. Laminopathies which primarily affect the striated muscles include autosomal dominant Emery-Dreifuss muscular dystrophy type 2 (EDMD2), sometimes referred to as limb-girdle muscular dystrophy type 1B (LGMD1B) (MedGen UID: 98048), congenital muscular dystrophy (CMD) (MedGen UID: 413043), and dilated cardiomyopathy (DCM) (MedGen UID: 258500), along with autosomal recessive Emery-Dreifuss muscular dystrophy type 3 (EDMD3) (MedGen UID: 413212). Laminopathies which primarily affect the peripheral nervous system include autosomal dominant (PMID: 14985400) and recessive Charcot-Marie-Tooth disease (MedGen UID: 343064). Syndromic laminopathies affecting multiple systems include autosomal dominant and recessive lipodystrophy (MedGen UID: 354526, 1684630), Hutchinson-Gilford progeria syndrome (HGPS) (MedGen UID: 46123), and heart-hand syndrome, Slovenian type (MedGen UID: 341859). Other conditions have also been reported (OMIM: 150330).
The LMOD3 gene is associated with autosomal recessive nemaline myopathy 10 (NEM10) (MedGen UID: 863797).
The LOX gene is associated with autosomal dominant thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 924785). Additionally, the LOX gene has preliminary evidence supporting a correlation with autosomal recessive cutis laxa (PMID: 33866545).
The LPL gene is associated with autosomal recessive lipoprotein lipase (LPL) deficiency (MedGen UID:7352), also known as familial chylomicronemia syndrome.
The LRP6 gene is associated with autosomal dominant tooth agenesis (MedGen UID: 899184). Additionally, the LRP6 gene has preliminary evidence supporting a correlation with autosomal dominant coronary artery disease (MedGen UID: 370259).
The LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719).
The LTBP3 gene is associated with autosomal dominant geleophysic dysplasia (MedGen UID: 1615724) and autosomal recessive dental anomalies and short stature (MedGen UID: 318659). There is preliminary evidence for supporting a correlation with autosomal dominant thoracic aortic aneurysm and dissection (TAAD) (PMID: 29625025).
The LZTR1 gene is associated with autosomal dominant LZTR1-related schwannomatosis (MedGen UID: 816613). In addition, LZTR1 is associated with autosomal dominant and autosomal recessive Noonan spectrum disorders (NSDs) (MedGen UID: 902892, MedGen UID: 344290).
The MAP2K1 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 18073) and cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815336).
The MAP2K2 gene is associated with autosomal dominant cardio-facio-cutaneous (CFC) syndrome (MedGen UID: 815337), which is one of the RASopathies (MedGen UID: 1792298).
The MAP3K8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Noonan syndrome (PMID: 25049390).
The MAT2A gene is associated with autosomal dominant nonsyndromic thoracic aortic aneurysms (PMID: 25557781, 33824467).
The MATR3 gene is associated with autosomal dominant amyotrophic lateral sclerosis 21 (ALS21) (MedGen UID: 813851), also known as distal myopathy 2 (MPD2).
The MED12 gene is associated with X-linked dominant Hardikar syndrome (PMID: 33244166) and neurodevelopmental disorder (PMID: 33244165) and X-linked recessive Lujan-Fryns syndrome (LFS) (MedGen UID: 167096), Opitz-Kaveggia syndrome (OKS) (MedGen UID: 113106), and Ohdo syndrome (MedGen UID: 785805), and syndromic intellectual disability (ID) (PMID: 30006928).
The MED13L gene is associated with autosomal dominant intellectual disabilities and facial dysmorphism with or without cardiac defects (MedGen UID: 900924). Additionally, the MED13L gene has preliminary evidence supporting a correlation with heterotaxy (PMID: 27959697, 14638541).
The MEGF10 gene is associated with autosomal recessive early-onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) (MedGen UID: 482309).
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).
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).
The MFAP5 gene is associated with autosomal dominant thoracic aortic aneurysms and dissection (TAAD) (MedGen UID: 863805).
The MRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 943628), which is one of the RASopathies (MedGen UID: 1792298).
The MTM1 gene is associated with X-linked centronuclear myopathy (XLCNM) (MedGen UID: 98374).
The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 10 (COXPD10) (MedGen UID: 766443).
The MTTP gene is associated with autosomal recessive abetalipoproteinemia (MedGen UID: 1253).
The MYBPC3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 350526) and dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the MYBPC3 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 28798025).
The MYF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy (PMID: 11053684).
The 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).
The MYH6 gene is associated with autosomal dominant atrial septal defects (MedGen UID: 481420). There is also preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442484) and dilated cardiomyopathy (DCM) (MedGen UID: 412965) and autosomal recessive congenital heart defects (PMID: 28991257). Additional MYH6-related conditions have been reported (OMIM: 160710).
The MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195), dilated cardiomyopathy (DCM) (MedGen UID: 37831), left ventricular noncompaction (LVNC) (MedGen UID: 349005), and Laing distal myopathy (MPD1) (MedGen UID: 449370). It is also associated with autosomal dominant and recessive myosin storage myopathy (MSMA) (MedGen UID:374868) and autosomal dominant scapuloperoneal myopathy (SPMM) (MedGen UID: 442146).
The MYL2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 331754) and autosomal recessive early-onset MYL2-associated light chain myopathy (PMID: 23365102).
The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806) and autosomal recessive restrictive cardiomyopathy (RCM) (PMID: 12021217).
The MYL4 gene is associated with autosomal recessive and autosomal dominant atrial fibrillation (PMID: 2580728, 27066836).
The MYLIP gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant lipidemia (PMID: 23324548).
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).
The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).
The MYLK3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 29235529).
The MYOM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 21256114).
The MYOT gene is associated with a spectrum of autosomal dominant neuromuscular conditions including myofibrillar myopathy 3 (MFM3) (MedGen UID: 811509), formerly known as limb-girdle muscular dystrophy type 1A (LGMD1A), and spheroid body myopathy (MedGen UID: 401082). Additionally, the MYOT gene has preliminary evidence supporting a correlation with autosomal recessive myofibrillar myopathy (PMID: 24928145).
The MYOZ2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462554).
The MYPN gene is associated with autosomal recessive nemaline myopathy 11 (NEM11) (MedGen UID: 1384302). Additionally, the MYPN gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (CMD1KK) (MedGen UID: 811544), hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) (PMID: 18006477, 22286171, 22892539).
The NEB gene is associated with autosomal recessive nemaline myopathy 2 (NEM2) (MedGen UID: 342534). Additionally, the NEB gene has preliminary evidence supporting a correlation with autosomal dominant nemaline myopathy (PMID: 30679003).
The NEBL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 20951326).
The NEXN gene is associated with autosomal recessive dilated cardiomyopathy (PMID: 32870709, 33949776, 32058062). There is also preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 413929), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462617), and left ventricular noncompaction cardiomyopathy (PMID: 28798025, 30471092).
The NF1 gene is associated with autosomal dominant neurofibromatosis type 1 (NF1) (MedGen UID: 18013), neurofibromatosis-Noonan syndrome (NFNS) (MedGen UID: 419089), and Watson syndrome (MedGen UID: 107817).
The 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).
The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).
The NKX2-6 gene is associated with autosomal recessive conotruncal heart malformations (MedGen UID: 341803).
The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).
The NOTCH1 gene is associated with autosomal dominant Adams-Oliver syndrome (MedGen UID: 863407), leukoencephalopathy with brain calcifications (PMID: 35947102), and isolated congenital heart defects with or without aortic valve disease (MedGen UID: 226776).
The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).
The NR2F2 gene is associated with an autosomal dominant neurodevelopmental condition (PMID: 37500725) and autosomal dominant congenital heart defects (MedGen UID: 777001).
The NRAS gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 413028), which is one of the RASopathies (MedGen UID: 1792298).
The NSD1 gene is associated with autosomal dominant Sotos syndrome (MedGen UID: 833601).
The NSUN2 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 370849). Additionally, the NSUN2 gene has preliminary evidence supporting a correlation with autosomal recessive Noonan-like syndrome (PMID: 24102521, 26055038).
The P3H1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 410075).
The PCCA gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).
The PCCB gene is associated with autosomal recessive propionic acidemia (MedGen UID: 1638582).
The PCDH19 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 338393). PCDH19-related EIEE appears to affect only heterozygous females while sparing obligate carrier males (PMID: 18469813). Males with somatic mosaicism have been reported to be affected with a similar phenotype to reported females (PMID: 28462982, 28669061, 26765483).
The 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.
The PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061).
The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205). Additionally, the PKP2 gene has preliminary evidence supporting a correlation with autosomal recessive ARVC (PMID: 17041889), autosomal dominant Brugada syndrome (PMID: 24352520), and autosomal dominant dilated cardiomyopathy (PMID: 20716751).
The 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).
The PLEC gene is associated with autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBSMD) (MedGen UID: 418981), epidermolysis bullosa simplex with pyloric atresia (EBSPA) (MedGen UID: 436922), and limb-girdle muscular dystrophy type 2Q (LGMD2Q) (MedGen UID: 462339). Additionally, the c.5998C>T (p.Arg2000Trp) variant in PLEC is associated with autosomal dominant epidermolysis bullosa simplex, Ogna type (EBSOG) (MedGen UID: 98488).
The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484).
The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313). Additionally, the PLN gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (PMID: 20530761).
The PLOD1 gene is associated with autosomal recessive Ehlers-Danlos syndrome, kyphoscoliotic form (MedGen UID: 75672).
The PLOD3 gene is associated with autosomal recessive lysyl hydroxylase-3 (LH3) deficiency (MedGen UID: 1634321).
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).
The PNPLA2 gene is associated with autosomal recessive neutral lipid storage disease with myopathy (NLSDM) (MedGen UID: 339913).
The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671).
The POMGNT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A8 (MDDGA8) (MedGen UID: 766727) and type C8 (MDDGC8) (MedGen UID: 1648468).
The POMK gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A12 (MDDGA12) (MedGen UID: 815294) and type C12 (MDDGC12) (MedGen UID: 863621).
The POMT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A1 (MDDGA1) (MedGen UID: 75553), type B1 (MDDGB1) (MedGen UID: 461765) and type C1 (MDDGC1) (MedGen UID: 332193).
The POMT2 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A2 (MDDGA2) (MedGen UID: 461761), type B2 (MDDGB2) (MedGen UID: 461766) and type C2 (MDDGC2) (MedGen UID: 461768).
The PPA2 gene is associated with autosomal recessive sudden cardiac failure (MedGen UID: 934631).
The PPCS gene is associated with autosomal recessive dilated cardiomyopathy (MedGen UID: 940825).
The PPP1CB gene is associated with autosomal dominant Noonan syndrome-like disorder with loose anagen hair (MedGen UID: 1376945).
The PRDM16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005) and dilated cardiomyopathy (DCM) (OMIM: 615373).
The PRKAG2 gene is associated with autosomal dominant glycogen storage related Wolff-Parkinson-White syndrome (MedGen UID: 12162) with or without hypertrophic cardiomyopathy (HCM) (MedGen UID: 331466).
The PRKG1 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 815843).
The PRRT2 gene is associated with a spectrum of clinically overlapping autosomal dominant neurological conditions including episodic kinesigenic dyskinesia 1 (EKD1) (MedGen UID: 1636366), benign familial infantile seizures 2 (BFIS2) (MedGen UID: 381313), autosomal dominant familial hemiplegic migraine (FHM) (PMID: 34649875, 33126486) and familial infantile convulsions with paroxysmal choreoathetosis (ICCA) (MedGen UID: 356123).
The PTPN11 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 1638960) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 1631694). In addition, PTPN11 is associated with autosomal dominant metachondromatosis (MedGen UID: 98377).
The RAF1 gene is associated with autosomal dominant Noonan spectrum disorders inclusive of Noonan syndrome (MedGen UID: 370589) and Noonan syndrome with multiple lentigines (NSML) (MedGen UID: 370588). In addition, RAF1 is associated with autosomal dominant dilated cardiomyopathy (MedGen UID: 863093).
The 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).
The RASA1 gene is associated with autosomal dominant capillary malformation-arteriovenous malformations (CM-AVM) (MedGen UID: 334007) and Parkes Weber syndrome (MedGen UID: 442305).
The RASA2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 25049390).
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).
The RBM20 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 416441).
The RIT1 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 815563), which is one of the RASopathies (MedGen UID: 1792298).
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) and childhood-onset epileptic encephalopathy (PMID: 35348658).
The RRAS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Noonan syndrome (PMID: 26446362, 24705357).
The RRAS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 1684730), which is one of the RASopathies (MedGen UID: 1792298).
The RXYLT1 gene (formerly known as TMEM5) is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A10 (MDDGA10) (MedGen UID: 767295).
The RYR1 gene is associated with autosomal dominant and recessive central core disease (CCD) (MedGen UID: 199773), autosomal recessive congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), autosomal recessive multiminicore disease (MmD) (MedGen UID: 340597) and autosomal recessive centronuclear myopathy (CNM) (MedGen UID: 808163). It is also associated with autosomal dominant malignant hyperthermia susceptibility type 1 (MHS1) (MedGen UID: 443948) and King–Denborough syndrome (KDS) (MedGen UID: 327082). The RYR1 gene also has preliminary evidence supporting a correlation with periodic paralysis (PMID: 29298851).
The RYR2 gene is associated with autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) (MedGen UID: 351513) and a spectrum of arrhythmogenic cardiomyopathy conditions, including autosomal dominant ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (CRDS) (MedGen UID: 2039) and autosomal recessive ventricular fibrillation and sudden cardiac arrest and/or death (PMID: 31913406, 33686871, 33984427).
The SAR1B gene is associated with autosomal recessive chylomicron retention disease (CMRD) (MedGen UID: 208651).
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).
The SCN10A gene is associated with autosomal recessive neuromuscular disease and epileptic encephalopathy (PMID: 28078312, 26757139). Additionally, the SCN10A gene has preliminary evidence supporting a correlation with autosomal dominant familial episodic pain syndrome type 2 (FEPS2) (MedGen UID: 816223), Brugada syndrome (BrS) (PMID: 24998131), and kidney stone disease (PMID: 29992996).
The SCN1A gene is associated with a spectrum of autosomal dominant and autosomal recessive seizure disorders ranging from simple febrile seizures (MedGen UID: 338959) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 388117) to Dravet syndrome (MedGen UID: 148243) and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) (MedGen UID: 148243). The SCN1A gene is also associated with autosomal dominant familial hemiplegic migraine 3 (FHM3) (MedGen UID: 400655) and autosomal dominant arthrogryposis multiplex congenita (AMC) (PMID: 32928894).
The SCN1B gene is associated with autosomal dominant generalized epilepsy with febrile seizures (MedGen UID: 348994) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1376462). Additionally, the SCN1B gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 411607), atrial fibrillation (MedGen UID: 334469), and cardiac conduction disease (PMID: 18464934).
The 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).
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).
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).
The SCN5A gene is associated with autosomal dominant Brugada syndrome (BrS) (MedGen UID: 468523), long QT syndrome (LQTS), type 3 (MedGen UID: 349087), dilated cardiomyopathy (DCM) (MedGen UID: 331341) and atrial fibrillation (MedGen UID: 462814) and more severe, early-onset autosomal recessive conditions (MedGen UID: 325270, PMID: 35052356, 17442746, 20950709, 20564468, 32850980). Other SCN5A-related conditions have been reported (OMIM: 600163).
The SCN8A gene is associated with a spectrum of autosomal dominant seizure disorders ranging from benign familial neonatal seizures (MedGen UID: 934695), epilepsy with mild cognitive impairment (PMID: 30968951, 32651551) to developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 482821). The SCN8A gene is also associated with autosomal dominant familial myoclonus 2 (MYOCL2) (MedGen UID: 1683864).
The SCN9A gene is associated with autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 503203), primary erythromelalgia (MedGen UID: 8688), small fiber neuropathy (SFNP) (MedGen UID: 416701), and paroxysmal extreme pain disorder (PEXPD) (MedGen UID: 331565). The SCN9A gene is also associated with autosomal recessive congenital indifference to pain (CIP), also referred to as hereditary sensory and autonomic neuropathy type 2D (HSAN2D) (MedGen UID: 344563).
The SDHA gene is associated with autosomal dominant hereditary paraganglioma-pheochromocytoma (PGL-PCC) syndrome (MedGen UID: 481622), and autosomal dominant and autosomal recessive mitochondrial complex II (CII) deficiency, with or without cardiomyopathy (MedGen UID: 344401). Additionally, the SDHA gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to renal cancer (PMID: 26722403) and pituitary adenomas (PMID: 26259135, 32621582).
The SELENON gene (formerly known as SEPN1) is associated with a spectrum of autosomal recessive congenital myopathies including rigid spine muscular dystrophy 1 (RSMD1) (MedGen UID: 98047) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).
The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).
The SGCA gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) (MedGen UID: 424706).
The SGCB gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2E (LGMD2E) (MedGen UID: 347674).
The SGCD gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) (MedGen UID: 331308). Additionally, the SGCD gene has preliminary evidence supporting a correlation with isolated autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 335735).
The SGCG gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) (MedGen UID: 98045).
The SHOC2 gene is associated with autosomal dominant Noonan-like syndrome with loose anagen hair (MedGen UID: 1379805), which is one of the RASopathies (MedGen UID: 1792298).
The SKI gene is associated with autosomal dominant Shprintzen-Goldberg syndrome (MedGen UID: 231160).
The SLC22A5 gene is associated with autosomal recessive primary carnitine deficiency (MedGen UID: 90999).
The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412).
The SLC2A10 gene is associated with autosomal recessive arterial tortuosity syndrome (MedGen UID: 347942).
The SLC39A13 gene is associated with autosomal recessive Ehlers-Danlos syndrome (EDS), spondylodysplastic type 3 (MedGen UID: 393515).
The SLC40A1 gene is associated with autosomal dominant ferroportin disease (aka hemochromatosis type 4 (HFE4)) (MedGen UID: 340044).
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).
The SMAD2 gene is associated with autosomal dominant Loeys-Dietz syndrome (PMID: 29392890, 26247899) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (PMID: 26247899). Additionally, the SMAD2 gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 23665959).
The SMAD3 gene is associated with autosomal dominant Loeys-Dietz syndrome 3 (LDS3) (MedGen UID: 462437) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 1644766).
The SMAD4 gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518), hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 331400), familial thoracic aortic aneurysm and aortic dissection (TAAD) (MedGen UID: 1644766), and Myhre syndrome (MedGen UID: 167103).
The SMAD6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aortic valve disease (MedGen UID: 762200), craniosynostosis (MedGen UID: 1392447), syndromic structural heart defects (PMID: 22275001), and radioulnar synostosis (RUS) (PMID: 31138930).
The 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).
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).
The SOS1 gene is associated with autosomal dominant Noonan spectrum disorders (MedGen UID: 339908) and hereditary gingival fibromatosis (PMID: 11868160).
The SOS2 gene is associated with autosomal dominant Noonan syndrome (MedGen UID: 896352), which is one of the RASopathies (MedGen UID: 1792298).
The 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).
The SPRED1 gene is associated with autosomal dominant Legius syndrome (MedGen UID: 370709).
The SQSTM1 gene is associated with a spectrum of overlapping autosomal dominant neurological conditions including Paget disease of bone 3 (PDB3) (MedGen UID: 895927), distal myopathy with rimmed vacuoles (DMRV) (MedGen UID: 893965), and frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) (MedGen UID: 897127). The SQSTM1 gene is also associated with autosomal recessive neurodegeneration with ataxia, dystonia and gaze palsy (NADGP) (MedGen UID: 934660).
The STAC3 gene is associated with autosomal recessive congenital myopathy (MedGen UID: 340586).
The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 860163), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).
The SUN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive myoclonic atonic epilepsy (PMID: 31170314) and Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).
The SUN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) (PMID: 25210889).
The SYNE1 gene is associated with autosomal recessive spinocerebellar ataxia type 8 (SCAR8) (MedGen UID: 343973) and myogenic-type arthrogryposis multiplex congenita 3 (AMC3) (MedGen UID: 1680655). Additionally, the SYNE1 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 4 (EDMD4) (MedGen UID: 414476) and dilated cardiomyopathy (PMID: 19944109, 17761684).
The SYNE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 5 (EDMD5) (MedGen UID: 414111).
The TAB2 gene is associated with autosomal dominant polyvalvular syndrome (PMID: 28464518, 29700987, 34456334, 28386937) and frontometaphyseal dysplasia (FMD) (PMID: 28498505).
The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005).
The TBX1 gene is associated with autosomal dominant DiGeorge/velocardiofacial syndrome (MedGen UID: 4297) and is one of the commonly deleted genes in the recurrent 22q11.2 microdeletion.
The TBX20 gene is associated with a variety of autosomal dominant congenital heart defects with, or without, dilated cardiomyopathy (MedGen UID: 349495).
The TBX4 gene is associated with autosomal dominant pulmonary arterial hypertension with or without ischiocoxopodopatellar syndrome (ICPPS) (MedGen UID: 333474) and autosomal recessive posterior amelia with pelvis and pulmonary hypoplasia (PMID: 31761294). Additionally, the TBX4 gene has preliminary evidence supporting a correlation with autosomal dominant acinar dysplasia (PMID: 30639323).
The TBX5 gene is associated with autosomal dominant Holt-Oram syndrome (HOS) (MedGen UID: 120524).
The TCAP gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) (MedGen UID: 400895), autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880), and autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649).
The TFAP2B gene is associated with autosomal dominant Char syndrome (MedGen UID: 358356).
The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).
The TGFB2 gene is associated with autosomal dominant Loeys-Dietz syndrome 4 (LDS4) (MedGen UID: 766676) and nonsyndromic thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 850745).
The TGFB3 gene is associated with autosomal dominant Loeys-Dietz syndrome (LDS) (MedGen UID: 816342). Additionally, the TGFB3 gene has preliminary evidence supporting a correlation with autosomal dominant nonsyndromic thoracic aortic aneurysm and/or dissection (MedGen UID: 879960).
The TGFBR1 gene is associated with autosomal dominant nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766), Loeys-Dietz syndrome 1 (LDS1) (MedGen UID: 1646567), and multiple self-healing squamous epithelioma (MSSE) (MedGen UID: 154270).
The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome 2 (LDS2) (MedGen UID: 382398) and nonsyndromic thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766).
The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441). Additionally, the TIA1 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 26 (ALS26) (MedGen UID: 977766).
The TMEM43 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (MedGen UID: 346805). Additionally, the TMEM43 gene has preliminary evidence supporting a correlation with autosomal dominant Emery-Dreifuss muscular dystrophy type 7 (EDMD7) (MedGen UID: 765974) and autosomal dominant auditory neuropathy spectrum disorder (PMID: 34050020).
The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).
The TMPO gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant high myopia (MedGen UID: 78759) and dilated cardiomyopathy (DCM) (MedGen UID: 2880).
The TNNC1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 442487) and dilated cardiomyopathy (DCM) (MedGen UID: 395631). Additionally, the TNNC1 gene has preliminary evidence supporting a correlation with autosomal dominant restrictive cardiomyopathy (PMID: 30384889).
The TNNI3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880) and restrictive cardiomyopathy (RCM) (MedGen UID: 396236), and with autosomal recessive dilated cardiomyopathy (PMID: 35838873). Additionally, the TNNI3 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (PMID: 30279906).
The TNNI3K gene is associated with autosomal dominant cardiac conduction disease with or without dilated cardiomyopathy (MedGen UID: 863722).
The TNNT1 gene is associated with autosomal recessive nemaline myopathy 5 (NEM5) (MedGen UID: 344273). Additionally, the TNNT1 gene has preliminary evidence supporting a correlation with autosomal dominant nemaline myopathy (PMID: 29178646).
The TNNT2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880), restrictive cardiomyopathy (RCM) (MedGen UID: 382807) and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).
The TNPO3 gene is associated with autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) (MedGen UID: 333983).
The TOR1AIP1 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) (MedGen UID: 934698). Additionally, the TOR1AIP1 gene has preliminary evidence supporting a correlation with autosomal recessive dystonia, cerebellar atrophy and cardiomyopathy (PMID: 25425325).
The TPM1 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 183649), dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (LVNC) (MedGen UID: 349005).
The TPM2 gene is associated with a spectrum of autosomal dominant neuromuscular conditions including nemaline myopathy 4 (NEM4) (MedGen UID: 324513), congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177), and distal arthrogryposis type 1A (DA1A) (MedGen UID: 113099). The TPM2 gene is also associated with autosomal recessive congenital myopathy (PMID: 19155175, 22798622).
The TPM3 gene is associated with autosomal dominant and recessive congenital myopathies including nemaline myopathy 1 (NEM1) (MedGen UID: 373089) and congenital myopathy with fiber-type disproportion (CFTD) (MedGen UID: 108177).
The TRAPPC11 gene is associated with autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) (MedGen UID: 815566).
The TRDN gene is associated with autosomal recessive triadin knockout syndrome (TKOS) (PMID: 30649896).
The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID: 78750).
The 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).
The TTN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the TTN gene is associated with a diverse group of disorders affecting skeletal muscles, including autosomal dominant tibial muscular dystrophy (TMD) (MedGen UID: 333047) and autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) (MedGen UID: 324741), autosomal recessive centronuclear myopathy (CNM) (PMID: 23975875), and autosomal dominant hereditary myopathy with early respiratory failure (HMERF) (MedGen UID: 350930). Additional TTN-related conditions have also been reported (OMIM: 188840).
The TTR gene is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (MedGen UID: 414031).
The TXNRD2 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 21247928).
The VCL gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 2880). Additionally, the VCL gene has preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (PMID: 23785128) and left ventricular noncompaction (PMID: 28798025).
The VCP gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) (MedGen UID: 1641069), frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) (MedGen UID: 462753), and Charcot-Marie-Tooth disease type 2Y (CMT2Y) (MedGen UID: 898987).
The YWHAZ gene is associated with autosomal dominant cardio-facio-cutaneous (CFC) syndrome ((PMID: 31024343), which is one of the RASopathies (MedGen UID: 1792298). Additionally, the YWHAZ gene has preliminary evidence supporting a correlation with autosomal dominant YWHAZ-related intellectual disability (PMID: 35143101, 36001342).
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).
The ZHX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertriglyceridemia (PMID: 22135386).
The ZIC3 gene is associated with X-linked recessive VACTERL association with hydrocephaly (MedGen UID: 419019) and X-linked recessive heterotaxy (MedGen UID: 336609).
