Neurology

The AARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) (MedGen UID: 413754) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 908570).

The ABAT gene is associated with autosomal recessive GABA-transaminase (GABA-T) deficiency (MedGen UID: 137977).

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).

The ABCD1 gene is associated with X-linked adrenoleukodystrophy (X-ALD) (MedGen UID: 57667).

The ACAD9 gene is associated with autosomal recessive mitochondrial complex I deficiency, nuclear type 20 (MC1DN20), also referred to as acyl-CoA dehydrogenase 9 (ACAD9) deficiency (MedGen UID: 370195).

The ACADM gene is associated with autosomal recessive medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MedGen UID: 65086).

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

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 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).

The ADCY5 gene is associated with autosomal dominant ADCY5-related dyskinesia (MedGen UID: 338280).

The ADGRB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia (PMID: 28891236).

The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641).

The ADSSL1 gene is associated with autosomal recessive distal myopathy 5 (MPD5) (MedGen UID: 934721).

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

The AGRN gene is associated with autosomal recessive congenital myasthenic syndrome 8 (CMS8) (MedGen UID: 815069). In addition, the AGRN gene has preliminary evidence supporting a correlation with autosomal recessive fetal akinesia deformation sequence (FADS) (PMID: 31730230).

The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350) and X-linked deafness-5 (MedGen UID: 335096). In addition, the AIFM1 gene has preliminary evidence supporting a correlation with X-linked combined oxidative phosphorylation deficiency 6 (COXPD6) (MedGen UID: 463103).

The ALDH18A1 gene is associated with autosomal dominant and recessive forms of cutis laxa (ADCL3 and ARCL3A, respectively) (MedGen UID: 899774, 1720006), the latter of which is also known as pyrroline-5-carboxylate synthetase (P5CS) deficiency. The ALDH18A1 gene is also associated with autosomal dominant and recessive forms of spastic paraplegia (SPG9A and SPG9B, respectively) (MedGen UID: 322007, 909058).

The ALDH5A1 gene is associated with autosomal recessive succinic semialdehyde dehydrogenase (SSADH) deficiency (MedGen UID: 124340).

The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).

The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895).

The ALG13 gene is associated with X-linked congenital disorder of glycosylation ALG13-CDG-Is (MedGen UID: 76469) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 763818).

The ALG14 gene is associated with autosomal recessive congenital myasthenic syndrome 15 (CMS15) (MedGen UID: 864033) and ALG14-congenital disorder of glycosylation (ALG14-CDG) (PMID: 28733338).

The ALG2 gene is associated with autosomal recessive congenital myasthenic syndrome 14 (CMS14) (MedGen UID: 864034). Additionally, the ALG2 gene has preliminary evidence supporting a correlation with autosomal recessive ALG2-congenital disorder of glycosylation (CDG-Ii) (MedGen UID: 334618).

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

The ALS2 gene is associated with a spectrum of autosomal recessive conditions: infantile-onset ascending hereditary spastic paraplegia (IAHSP) (MedGen UID: 335467), juvenile primary lateral sclerosis (JPLS) (MedGen UID: 342870), and juvenile amyotrophic lateral sclerosis 2 (ALS2) (MedGen UID: 349246).

The AMACR gene is associated with autosomal recessive alpha-methylacyl-CoA racemase (AMACR) deficiency (MedGen UID: 482058).

The AMPD1 gene is associated with autosomal recessive muscle AMP deaminase deficiency (MMDD) (MedGen UID: 811508).

The AMPD2 gene is associated with autosomal recessive pontocerebellar hypoplasia, type 9 (PCH9) (MedGen UID: 862791). Additionally, the AMPD2 gene has preliminary evidence supporting a correlation with spastic paraplegia 63 (SPG63) (MedGen UID:816625).

The AMT gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

The ANG gene is associated with autosomal dominant amyotrophic lateral sclerosis type 9 (ALS9) (MedGen UID: 395629).

The 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 ANO3 gene is associated with autosomal dominant dystonia 24 (DYT24) (MedGen UID: 767288).

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

The ANXA11 gene is associated with autosomal dominant amyotrophic lateral sclerosis 23 (ALS23) (MedGen UID: 1645924).

The AP4B1 gene is associated with autosomal recessive hereditary spastic paraplegia 47 (SPG47) (MedGen UID: 481368).

The AP4E1 gene is associated with autosomal recessive hereditary spastic paraplegia 51 (SPG51) (MedGen UID: 462406).

The AP4M1 gene is associated with autosomal recessive hereditary spastic paraplegia 50 (SPG50) (MedGen UID: 442869). Additionally, the AP4M1 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (NBIA) (PMID: 29473051).

The AP4S1 gene is associated with autosomal recessive hereditary spastic paraplegia 52 (SPG52) (MedGen UID: 481373).

The AP5Z1 gene is associated with autosomal recessive hereditary spastic paraplegia 48 (SPG48) (MedGen UID: 462251).

The 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 APP gene is associated with autosomal dominant Alzheimer disease type 1 (AD1) (MedGen UID: 1853) and APP-related cerebral amyloid angiopathy (CAA) (MedGen UID: 414044).

The ARG1 gene is associated with autosomal recessive arginase deficiency (MedGen UID: 78688).

The ARHGEF10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant slowed nerve conduction velocity (MedGen UID: 330829).

The ARHGEF15 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant developmental and epileptic encephalopathy (PMID: 23647072).

The ARHGEF9 gene is associated with X-linked recessive hereditary hyperekplexia /developmental and epileptic encephalopathy (DEE8) (MedGen UID: 375581).

The ARL6IP1 gene is associated with autosomal recessive hereditary spastic paraplegia 61 (SPG61) (MedGen UID: 816624).

The ARSI gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary spastic paraplegia (PMID: 24482476).

The ARX gene is associated with X-linked recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), or West syndrome, and X-linked lissencephaly with ambiguous genitalia (XLAG) (MedGen UID: 375832).

The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854).

The ATL1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322). The ATL1 gene is also associated with autosomal dominant and recessive hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393, PMID: 26888483).

The ATL3 gene is associated with autosomal dominant hereditary sensory neuropathy type 1F (HSN1F) (MedGen UID: 816524).

The ATP13A2 gene is associated with autosomal recessive Kufor-Rakeb syndrome (KRS) (MedGen UID: 338281), also known as Parkinson disease 9 (PARK9), and autosomal recessive hereditary spastic paraplegia (SPG78) (MedGen UID: 934629). Additionally, the ATP13A2 gene has preliminary evidence supporting a correlation with autosomal recessive neuronal ceroid lipofuscinoses (PMID: 22388936) and amyotrophic lateral sclerosis (PMID: 30992063).

The ATP1A1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) (MedGen UID:1648475) and ATP1A1-related neurodevelopmental disorder (MedGen UID:1675904).

The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine type 2 (FHM2) (MedGen UID: 355962), alternating hemiplegia of childhood type 1 (AHC1) (MedGen UID: 762361) and autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (PMID: 27864847). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant hypokalemic periodic paralysis (PMID: 30423015).

The ATP1A3 gene is associated with autosomal dominant dystonia 12 (DYT12) (MedGen UID: 358384), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome (MedGen UID: 318633), and alternating hemiplegia of childhood type 2 (AHC2) (MedGen UID: 766702).

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

The ATP2B4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia (PMID: 25119969).

The ATP6AP2 gene is associated with X-linked intellectual disability with epilepsy (MRXE) (MedGen UID: 337257) and glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC) (PMID: 29127204). Additionally, the ATP6AP2 gene has preliminary evidence supporting a correlation with X-linked Parkinsonism with spasticity (PMID: 23595882, 26467484) and an infantile neurodegenerative condition (PMID: 30985297).

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).

The ATRX gene is associated with Alpha-thalassemia X-linked intellectual disability (ATRX) syndrome (MedGen UID: 337145).

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

The B4GALNT1 gene is associated with autosomal recessive hereditary spastic paraplegia 26 (SPG26) (MedGen UID: 373138).

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

The BAG3 gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 462643), myofibrillar myopathy 6 (MFM6) (MedGen UID: 414119) and Charcot-Marie-Tooth disease type 2 (PMID: 28754666).

The BCAP31 gene is associated with X-linked recessive deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome (MedGen UID: 812964).

The BICD2 gene is associated with autosomal dominant spinal muscular atrophy, lower extremity predominant 2A (SMALED2A) (MedGen UID: 1669929) and 2B (SMALED2B) (MedGen UID: 1648362).

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

The BRAT1 gene is associated with a spectrum of autosomal recessive conditions including neonatal-lethal rigidity and multifocal seizure syndrome (RFMSL) (MedGen UID: 482659) and neurodevelopmental disorder with cerebellar atrophy with or without seizures (NEDCAS) (MedGen UID: 1648373).

The BSCL2 gene is associated with a spectrum of autosomal dominant neurological conditions, including Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 23142943), also known as distal hereditary motor neuropathy type 5 (HMN5) (MedGen UID: 318838), and spastic paraplegia 17 (SPG17), also known as Silver syndrome (MedGen UID: 419034). It is also associated with a spectrum of autosomal recessive conditions including congenital generalized lipodystrophy, type 2 (CGL2) (MedGen UID: 318593) and progressive encephalopathy with or without lipodystrophy (PELD) (MedGen UID: 863137).

The C12orf57 gene is associated with autosomal recessive Temtamy syndrome (MedGen UID: 347474).

The C12ORF65 gene is associated with autosomal recessive hereditary spastic paraplegia 55 (SPG55) (MedGen UID: 761342) and autosomal recessive combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).

The C19orf12 gene is associated with autosomal dominant and recessive mitochondrial membrane protein-associated neurodegeneration (MPAN) (MedGen UID: 482001). Additionally, the C19orf12 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 43 (SPG43) (MedGen UID: 760531).

The CACNA1A gene is associated with autosomal dominant developmental and epileptic encephalopathy (DEE), also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934683), episodic ataxia type 2 (EA2) (MedGen UID: 314039), and familial hemiplegic migraine type 1 (FHM1) (MedGen UID: 331388). Additionally, the CACNA1A gene is associated with autosomal dominant spinocerebellar ataxia 6 (SCA6) (MedGen UID: 148458), which is caused by trinucleotide repeat expansion. Trinucleotide repeat expansions are not evaluated by this assay.

The CACNA1C gene is associated with autosomal dominant Timothy syndrome (TS), also known as long QT syndrome (LQTS), type 8 (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).

The CACNA1H gene is associated with autosomal dominant familial hyperaldosteronism (MedGen UID: 934723). Additionally, the CACNA1H gene has preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy syndromes (PMID: 12891677, 15048902, 17696120).

The CACNA1S gene is associated with autosomal dominant hypokalemic periodic paralysis 1 (HOKPP1) (MedGen UID: 811387), congenital myopathy (PMID: 28012042), and malignant hyperthermia susceptibility 5 (MHS5) (MedGen UID: 356151). It is also associated with autosomal recessive congenital myopathy (PMID: 28012042).

The CACNA2D2 gene is associated with autosomal recessive cerebellar atrophy with seizures and variable developmental delay (CASVDD) (MedGen UID: 944061).

The CALR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 462616).

The CAMK2B gene is associated with autosomal dominant intellectual disability (MedGen UID: 1614787).

The CAPN1 gene is associated with autosomal recessive hereditary spastic paraplegia 76 (SPG76) (MedGen UID: 934767).

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

The CARS2 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 27 (COXPD27) (MedGen UID: 322999).

The CASK gene is associated with a spectrum of X-linked conditions including intellectual disability (ID) (MedGen UID: 411367), FG syndrome 4 (FGS4) (MedGen UID: 336965 ), and intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (MedGen UID: 437070).

The CASQ1 gene is associated with autosomal dominant vacuolar myopathy with CASQ1 aggregates (VMCQA) (MedGen UID: 864061). Additionally, the CASQ1 gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia (PMID: 27832566).

The CASR gene is associated with a spectrum of disorders including autosomal dominant familial hypocalciuric hypercalcemia (FHH) (MedGen UID: 369200), autosomal dominant hypocalcemia (ADH) (MedGen UID: 87438), ADH with Bartter syndrome (MedGen UID: 811594), autosomal recessive neonatal severe hyperparathyroidism (NSHPT) (MedGen UID: 331326), and possibly familial isolated hyperparathyroidism (FIHP) (PMID: 14985373, 21521328). Additionally, there is data suggesting CASR is associated with autosomal dominant idiopathic generalized epilepsy (PMID: 18756473) and chronic pancreatitis (PMID: 14641934, 16497624). The evidence, however, is insufficient to make a determination regarding these relationships.

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). 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 CCER2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant moyamoya disease (PMID: 27717682).

The CCM2 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 400438).

The CCT5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary sensory neuropathy with spastic paraplegia (MedGen UID: 342492).

The CDKL5 gene is associated with X-linked dominant early infantile epileptic encephalopathy/West syndrome (MedGen UID: 326463), atypical Rett syndrome (PMID: 16015284, 15689447), and Angelman-like syndrome (MedGen UID: 472054).

The CDON gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 481845).

The CERS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy 8 (EPM8) (PMID: 24782409).

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

The CHAT gene is associated with autosomal recessive congenital myasthenic syndrome 6 (CMS6) (MedGen UID: 140751).

The CHCHD10 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) (MedGen UID: 863085), spinal muscular atrophy, Jokela type (SMAJ) (MedGen UID: 767312), and isolated mitochondrial myopathy (IMMD) (MedGen UID: 863950).

The CHCHD2 gene is associated with autosomal dominant Parkinson disease 22 (PARK22) (MedGen UID: 907886).

The CHD2 gene is associated with autosomal dominant childhood-onset epileptic encephalopathy (MedGen UID: 815608).

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

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

The CHMP2B gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7), previously known as amyotrophic lateral sclerosis 17 (ALS17) (MedGen UID: 373010).

The CHRM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 18451336, 23743182).

The CHRNA1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 903294, 909200). Additionally, the CHRNA1 gene has preliminary evidence supporting a correlation with autosomal recessive lethal multiple pterygium syndrome (LMPS) (MedGen UID: 381473).

The CHRNA2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 332082).

The CHRNA4 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 324932).

The CHRNB1 gene is associated with autosomal dominant and recessive forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 908185, 903254, 373251).

The CHRNB2 gene is associated with autosomal dominant nocturnal frontal lobe epilepsy (MedGen UID: 344263).

The CHRND gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UID: 898378, 903088, 909404) and autosomal recessive lethal multiple pterygium syndrome (LMPS) (MedGen UID: 381473).

The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 904424, 908188).

The CIZ1 gene is associated with autosomal dominant dystonia 23 (PMID: 22447717).

The CLCN1 gene is associated with autosomal dominant and recessive myotonia congenita (MedGen UID: 422446, 155852).

The CLCN4 gene is associated with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 27550844) and X-linked intellectual disability (MedGen UID: 923000).

The TPP1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 2 (CLN2) (MedGen UID: 406281).

The CLN3 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 3 (CLN3) (MedGen UID: 155549) and non-syndromic retinitis pigmentosa (PMID: 28542676, 24154662).

The CLN5 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 5 (CLN5) (MedGen UID: 376792).

The CLN6 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 6 (CLN6) (MedGen UID: 356494).

The CLN8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 8 (CLN8) (MedGen UID: 374004).

The CLTC gene is associated with autosomal dominant intellectual disability (MedGen UID: 1638835). Additionally, the CLTC gene has preliminary evidence supporting a correlation with autosomal dominant atypical Rett syndrome (PMID: 28856709).

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

The CNTN2 gene is associated with autosomal recessive myoclonic epilepsy (MedGen UID: 815704).

The CNTNAP2 gene is associated with autosomal recessive intellectual disability disorders: cortical dysplasia-focal epilepsy syndrome (CDFES) (MedGen UID: 355859) and Pitt-Hopkins-like syndrome (PMID: 19896112).

The COASY gene is associated with autosomal recessive COASY protein-associated neurodegeneration (CoPAN) (MedGen UID: 816560).

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).

The COL13A1 gene is associated with autosomal recessive congenital myasthenic syndrome (CMS19) (MedGen UID 897962).

The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781).

The COL4A2 gene is associated with autosomal dominant porencephaly 2, also known as brain small vessel disease 2 (BSVD2) (MedGen UID: 482600).

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).

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).

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).

The COLQ gene is associated with autosomal recessive congenital myasthenic syndrome 5 (CMS5) (MedGen UID: 400481).

The COQ4 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 833081).

The COQ8A gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 436985).

The COQ9 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766288).

The COX6A1 gene is associated with autosomal recessive intermediate Charcot-Marie-Tooth disease D (CMTRID) (MedGen UID: 863466).

The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163).

The CPT1A gene is associated with autosomal recessive carnitine palmitoyltransferase I (CPT1) deficiency (MedGen UID: 316820).

The CPT1C gene is associated with autosomal dominant spastic paraplegia 73 (SPG73) (MedGen UID: 905874).

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

The CRAT gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with presumed autosomal recessive neurodegeneration with brain iron accumulation-8 (MedGen UID: 1645224) and carnitine acetyltransferase deficiency (PMID: 31448845).

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

The CSF1R gene is associated with autosomal dominant hereditary diffuse leukoencephalopathy with spheroids (HDLS) (MedGen UID: 777989) and autosomal recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) (MedGen UID: 1678789).

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

The CST3 gene is associated with autosomal dominant hereditary cerebral amyloid angiopathy (HCAA) (MedGen UID: 279656).

The CSTB gene is associated with autosomal recessive Unverricht-Lundborg syndrome (EPM1) (MedGen UID: 155923), a subtype of progressive myoclonic epilepsy. Most cases of EPM1 are due to a dodecamer repeat expansion, which is not analyzed by this test.

The CTDP1 gene is associated with autosomal recessive congenital cataracts with facial dysmorphism and neuropathy (CCFDN) (Medgen UID: 346973).

The CTF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 11058912).

The CTNNA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 816468).

The CTNNB1 gene is associated with an autosomal dominant intellectual disability syndrome (MedGen UID: 767363) and familial exudative vitreoretinopathy (FEVR) (MedGen UID: 1626650). Additionally, the CTNNB1 gene has preliminary evidence supporting a correlation with autosomal dominant Rett-like syndrome (PMID: 28856709) and sclerosing bone dysplasia and adrenocortical neoplasia (PMID: 31970420).

The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).

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

The CYP2U1 gene is associated with autosomal recessive hereditary spastic paraplegia 56 (SPG56) (MedGen UID: 761343).

The CYP7B1 gene is associated with autosomal recessive hereditary spastic paraplegia type 5A (SPG5A) (MedGen UID: 376521) and congenital bile acid synthesis defect type 3 (CBAS3) (MedGenUID: 462497).

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

The DCAF17 gene is associated with autosomal recessive Woodhouse-Sakati syndrome (WSS) (MedGen UID: 83337).

The DCTN1 gene is associated with a spectrum of autosomal dominant neurological conditions including Perry syndrome (MedGen UID: 357007), distal hereditary motor neuropathy type VIIB (HMN7B) (MedGen UID: 375157), and amyotrophic lateral sclerosis 1 (ALS1) (MedGen UID: 400169).

The DDC gene is associated with autosomal recessive aromatic L-amino acid decarboxylase (AADC) deficiency (MedGen UID: 220945).

The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174). Additionally, the DDHD1 gene has preliminary evidence supporting a correlation with juvenile amyotrophic lateral sclerosis (JALS) (PMID: 27999540).

The DDHD2 gene is associated with autosomal recessive hereditary spastic paraplegia 54 (SPG54) (MedGen UID: 761341).

The DDX3X gene is associated with an X-linked intellectual disability syndrome (MedGen UID: 897961).

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).

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 DGUOK gene is associated with a spectrum of autosomal recessive mitochondrial disorders including mitochondrial DNA depletion syndrome 3 (MTDPS3) (MedGen UID: 462863) and progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOB4) (MedGen UID: 934700).

The DHTKD1 gene is associated with autosomal recessive 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) (MedGen UID: 395350), a biochemical phenotype which may or may not result in a clinical condition. The DHTKD1 gene is also associated with autosomal dominant Charcot-Marie-Tooth disease type 2Q (CMT2Q) (MedGen UID: 767280). Additionally, the DHTKD1 gene has preliminary evidence supporting a correlation with autosomal recessive steroid resistant nephrotic syndrome (PMID: 29127259).

The DIAPH1 gene is associated with autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995) and autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797).

The 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 DNAJB2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2) (MedGen UID: 968941), also known as distal spinal muscular atrophy 5 (DSMA5) (MedGen UID: 766903) or distal hereditary motor neuropathy (PMID: 22522442).

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

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

The DNAJC5 gene is associated with autosomal dominant neuronal ceroid lipofuscinosis type 4 (CLN4) (MedGen UID: 320287).

The DNAJC6 gene is associated with autosomal recessive juvenile-onset Parkinson disease 19 (PARK19) (MedGen UID: 816141).

The DNM1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 894942).

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

The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 813625).

The DOCK7 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862929).

The DOK7 gene is associated with autosomal recessive congenital myasthenic syndrome 10 (CMS10) (MedGen UID: 376880) and fetal akinesia deformation sequence 3 (FADS3) (MedGen UID: 941313).

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

The DPAGT1 gene is associated with autosomal recessive congenital myasthenic syndrome 13 (CMS13) (MedGen UID: 766559) and DPAGT1-congenital disorder of glycosylation (CDG-Ij) (MedGen UID: 419694).

The 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 DRD2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant myoclonic dystonia (MedGen UID: 331778).

The DRP2 gene is associated with X-linked Charcot-Marie-Tooth disease (PMID: 26227883).

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

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

The DSP gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 336069) and 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).

The DST gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 6 (HSAN6) (MedGen UID: 761278) and epidermolysis bullosa simplex 2 (EBSB2) (MedGen UID: 815800). Detection of variants in the neuronal isoform dystonin-a2 transcript (NM_001144769) is not guaranteed with the current assay (PMID: 32042917).

The DSTYK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia 23 (SPG23) (MedGen UID: 167094) and autosomal dominant congenital anomalies of kidney and urinary tract (MedGen UID: 322763).

The DTNA gene 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).

The DYNC1H1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2O (CMT2O) (MedGen UID: 481850), lower extremity predominant spinal muscular atrophy 1 (SMALED1) (MedGen UID: 322470) and intellectual disability (MedGen UID: 482832).

The DYRK1A gene is associated with autosomal dominant intellectual disability 7 (IDD7) (MedGen UID: 481469).

The DYSF gene is associated with autosomal recessive Miyoshi muscular dystrophy type 1 (MMD1) (MedGen UID: 338128), limb-girdle muscular dystrophy type 2B (LGMD2B) (MedGen UID: 338149), and distal myopathy with anterior tibial onset (DMAT) (MedGen UID: 335706), collectively known as the dysferlinopathies (MedGen UID: 419874).

The EEF1A2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 897930). Additionally, the EEF1A2 gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy with dilated cardiomyopathy (PMID: 28911200).

The EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709) and Charcot-Marie-Tooth disease type 3 (CMT3), also known as Dejerine-Sottas syndrome (MedGen UID: 3710), and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E), also known as congenital hypomyelinating neuropathy (MedGen UID: 1648303).

The EHMT1 gene is associated with autosomal dominant Kleefstra syndrome (MedGen UID: 208639).

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

The ELP1 gene (formerly known as IKBKAP) is associated with autosomal recessive familial dysautonomia (FD), also known as hereditary sensory and autonomic neuropathy type 3 (HSAN3) (MedGen UID: 41678).

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

The ENO3 gene is associated with autosomal recessive glycogen storage disease (GSD) XIII (MedGen UID: 442873).

The ENTPD1 gene is associated with autosomal recessive spastic paraplegia 64 (SPG64) (MedGen UID: 816619).

The EPM2A gene is associated with autosomal recessive progressive myoclonus epilepsy, Lafora type (MedGen UID: 155631).

The ERBB4 gene is associated with autosomal dominant amyotrophic lateral sclerosis 19 (ALS19) (MedGen UID: 811607). Additionally, the ERBB4 gene has preliminary evidence supporting a correlation with chronic kidney disease (PMID: 25893603) and isolated hypogonadotropic hypogonadism (PMID: 30098700).

The ERLIN1 gene is associated with autosomal recessive hereditary spastic paraplegia 62 (SPG62) (MedGen UID: 924879). Additionally, the ERLIN1 gene has preliminary evidence supporting a correlation with autosomal recessive amyotrophic lateral sclerosis (ALS) (PMID: 29453415).

The ERLIN2 gene is associated with autosomal recessive hereditary spastic paraplegia 18 (SPG18) (MedGen UID: 442343).

The ETFA gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

The ETFB gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

The ETFDH gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase deficiency (MADD) (also known as glutaric acidemia type II; GA II) (MedGen UID: 75696).

The EXOSC3 gene is associated with autosomal recessive pontocerebellar hypoplasia (PCH) type 1B (MedGen UID: 766363). Additionally, the EXOSC3 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 23975261, 25149867).

The EXOSC9 gene is associated with autosomal recessive pontocerebellar hypoplasia type 1D (PCH1D) (MedGen UID: 922097).

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 FA2H gene is associated with autosomal recessive fatty acid hydroxylase-associated neurodegeneration (FAHN) (MedGenUID: 777150) and hereditary spastic paraplegia 35 (SPG35) (MedGen UID: 501249).

The FARS2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 22833457, 25851414, 27652284) and hereditary spastic paraplegia 77 (SPG77) (MedGen UID: 934717).

The FASN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant epileptic encephalopathy (PMID: 25262651).

The FBLN5 gene is associated with autosomal dominant hereditary neuropathy with or without age-related macular degeneration (HNARMD) (MedGen UID: 904080) and autosomal recessive cutis laxa, type 1A (ARCL1A) (MedGen UID: 472614).

The FBXO38 gene is associated with autosomal dominant distal hereditary motor neuropathy 2D (HMN2D) (MedGen UID: 854832).

The FBXO7 gene is associated with autosomal recessive Parkinson disease 15 (PARK15) (MedGen UID: 337969).

The FDX2 gene (formerly known as FDX1L) is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 56484).

The FGD4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) (MedGen UID: 324487).

The FGFR1 gene is associated with autosomal dominant Kallmann syndrome 2 (MedGen UID: 289648), craniosynostosis (MedGen UID: 350148), Hartsfield syndrome (MedGen UID: 335111) and osteoglophonic dysplasia (MedGen UID: 96592). Additionally, the FGFR1 gene has preliminary evidence supporting a correlation with autosomal recessive Kallmann syndrome (PMID: 25394172) and Hartsfield syndrome (PMID: 23812909).

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

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

The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818). In addition, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (MedGen UID: 393399).

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

The FKRP gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A5 (MDDGA5) (MedGen UID: 461763), type B5 (MDDGB5) (MedGen UID: 335764), and type C5 (MDDGC5) (MedGen UID: 339580).

The FKTN gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A4 (MDDGA4), also known as Fukuyama congenital muscular dystrophy (FCMD) (MedGen UID: 140820), type B4 (MDDGB4) (MedGen UID: 413465) and type C4 (MDDGC4) (MedGen UID: 370585).

The FLAD1 gene is associated with autosomal recessive multiple acyl-CoA dehydrogenase (MAD) deficiency due to flavin adenine dinucleotide synthetase deficiency (MedGen UID: 934789).

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

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

The FLRT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive peripheral neuropathy (PMID: 24482476).

The FOLR1 gene is associated with autosomal recessive cerebral folate deficiency (MedGen UID: 442763).

The FOXC1 gene is associated with autosomal dominant anterior segment dysgenesis (ASD) (MedGen UID: 355748), Axenfeld-Rieger syndrome (ARS) (Medgen UID: 394534), primary congenital glaucoma (PCG) (PMID: 30653210), and congenital anomalies of the kidney and urinary tract (CAKUT) (PMID: 32475988).

The FOXG1 gene is associated with autosomal dominant congenital / atypical Rett syndrome (MedGen UID: 462055).

The 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 FRRS1L gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (EIEE) (MedGen UID: 934737).

The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (MedGen UID: 816420).

The FUCA1 gene is associated with autosomal recessive fucosidosis (MedGen UID: 5288)

The FUS gene is associated with autosomal dominant amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) (MedGen UID: 374989). Additionally, the FUS gene has preliminary evidence supporting an association with autosomal dominant hereditary essential tremor 4 (ETM4) (MedGen UID: 761337).

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

The GABBR2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1633749) and Rett syndrome (PMID: 28856709).

The GABRA1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 483052), childhood absence epilepsy (MedGen UID: 369671), and juvenile myoclonic epilepsy (MedGen UID: 442345).

The GABRA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (PMID: 19429026, 21930603).

The GABRB2 gene is associated with autosomal dominant intellectual disability and epilepsy (PMID: 27622563, 27789573, 29100083).

The GABRB3 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934679), generalized epilepsy with febrile seizures plus, and familial febrile seizures (PMID: 28053010) Additionally, the GABRB3 gene has preliminary evidence supporting a correlation with autosomal dominant childhood absence epilepsy (CAE), a type of autosomal dominant idiopathic generalized epilepsy (MedGen UID: 393654).

The GABRD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to genetic epilepsy with febrile seizures plus (GEFSP), idiopathic generalized epilepsy (EIG), susceptibility to juvenile myoclonic epilepsy (EJM) (PMID: 15115768, 16023832), and Rett syndrome (PMID 25156961).

The GABRG2 gene is associated with autosomal dominant childhood absence epilepsy (CAE) (MedGen UID: 334707), generalized epilepsy with febrile seizures plus, and familial febrile seizures (MedGen UID: 370755) and developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1680535).

The GAMT gene is associated with autosomal recessive guanidinoacetate methyltransferase (GAMT) deficiency (MedGen UID: 154356).

The GAN gene is associated with autosomal recessive giant axonal neuropathy 1 (GAN1) (MedGen UID: 376775).

The GARS gene is associated with a spectrum of autosomal dominant axonal neuropathies (MedGen UID: 468432) including Charcot-Marie-Tooth disease type 2D (CMT2D) (MedGen UID: 316946), also referred to as distal hereditary motor neuropathy 5 (HMN5) (MedGen UID: 318838) or infantile spinal muscular atrophy, James type (SMAJI) (MedGen UID: 978273). Additionally, the GARS gene is associated with autosomal recessive multisystem disorders (PMID: 28675565, 24669931).

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

The GATA6 gene is associated with autosomal dominant pancreatic agenesis, with or without other clinical features (PMID: 22158542, 24310933). 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 GATM gene is associated with autosomal dominant renal Fanconi syndrome with kidney failure (PMID: 29654216) and autosomal recessive cerebral creatine deficiency syndrome due to arginine:glycine amidinotransferase (AGAT) deficiency (MedGen UID: 436367).

The GBA gene is associated with autosomal recessive Gaucher disease (MedGen UID: 409531). Additionally, GBA is associated with an increased risk for late-onset Parkinson disease (MedGen UID: 463618).

The GBA2 gene is associated with autosomal recessive hereditary spastic paraplegia 46 (SPG46) (MedGen UID: 473687).

The GBE1 gene is associated with autosomal recessive glycogen storage disease IV (GSD IV) (MedGen UID: 6642) and autosomal recessive adult polyglucosan body disease (APBD) (MedGen UID: 342338).

The GCH1 gene is associated with autosomal dominant dopa-responsive dystonia (DRD) (MedGen UID: 342121), and autosomal recessive BH4-deficient hyperphenylalaninemia, also known as GTP cyclohydrolase I deficiency (MedGen UID: 75683).

The GDAP1 gene is associated with autosomal dominant and recessive forms of Charcot-Marie-Tooth (CMT) disease (MedGen UID: 347821, 375064, 334012, 375113).

The GFPT1 gene is associated with autosomal recessive congenital myasthenic syndrome 12 (CMS12) (MedGen UID: 350478).

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

The GJB1 gene (also known as Connexin 32 or Cx32) is associated with X-linked Charcot-Marie-Tooth disease type 1X (CMT1X) (MedGen UID: 98290).

The GJC2 gene is associated with a spectrum of autosomal recessive neurological conditions including hereditary spastic paraplegia 44 (SPG44) (MedGen UID: 413042) and hypomyelinating leukodystrophy 2 (HLD2), which is also referred to as Pelizaeus-Merzbacher-like disease (MedGen UID: 325157). The GJC2 gene is also associated with autosomal dominant hereditary primary lymphedema (MedGen UID: 1652857).

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

The GLDC gene is associated with autosomal recessive glycine encephalopathy (MedGen UID: 155625).

The GLI2 gene is associated with autosomal dominant Culler-Jones syndrome (MedGen UID: 862916) and autosomal dominant holoprosencephaly (MedGen UID 324369). Additionally, the GLI2 gene has preliminary evidence supporting a correlation with autosomal dominant septo-optic dysplasia (PMID: 25056824).

The GLRA1 gene is associated with autosomal dominant and autosomal recessive hyperekplexia 1 (HKPX1) (MedGen UID: 332019).

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

The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).

The GNAO1 gene is associated with an autosomal dominant spectrum of conditions including developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 815936) and neurodevelopmental disorder with involuntary movements (NEDIM) (MedGen UID: 1374697).

The GNB4 gene is associated with dominant intermediate Charcot-Marie-Tooth disease type F (CMTDIF) (MedGen UID: 767568).

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

The GOSR2 gene is associated with autosomal recessive progressive myoclonic epilepsy (MedGen UID: 481257). Additionally, the GOSR2 gene has preliminary evidence supporting a correlation with autosomal recessive muscular dystrophy and developmental delay (PMID: 29855340, 25326637).

The GPHN gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340761) and autosomal dominant GPHN-related spectrum disorder including seizures, autism and intellectual disability (PMID: 23393157). Additionally, the GPHN gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 26613940).

The GRIA3 gene is associated with X-linked intellectual disability (MedGen UID: 1675094). Additionally, the GRIA3 gene has preliminary evidence supporting a correlation with X-linked developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 26648591).

The GRIN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 25864721, 23934111) and autosomal dominant intellectual disability (MedGen UID: 481912).

The GRIN2A gene is associated with a spectrum of autosomal dominant developmental and epileptic encephalopathy (MedGen UID: 812732).

The GRIN2B gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 830511) and autosomal dominant intellectual disability (MedGen UID: 462761).

The GRN gene is associated with autosomal dominant GRN-related frontotemporal dementia (FTD-GRN) (MedGen UID: 375285) and autosomal recessive neuronal ceroid lipofuscinosis type 11 (CLN11) (MedGen UID: 761331).

The GSN gene is associated with autosomal dominant amyloidosis, Finnish type (MedGen UID: 301243).

The GTPBP2 gene is associated with autosomal recessive Jaberi-Elahi syndrome (MedGen UID: 1647359).

The GUCY1A1 gene (formerly known as GUCY1A3) is associated with autosomal recessive Moyamoya disease type 6 (MYMY6) (MedGen UID: 816733). Additionally, the GUCY1A1 gene has preliminary evidence supporting a correlation with myocardial infarction (PMID: 24213632).

The GYG1 gene is associated with autosomal recessive polyglucosan body myopathy 2 (PGBM2) (MedGen UID: 863889) and autosomal recessive glycogen storage disease XV (GSD XV) (MedGen UID: 462104, PMID: 25272951).

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

The HACD1 gene is associated with autosomal recessive congenital myopathy (PMID: 23933735).

The HACE1 gene is associated with autosomal recessive spastic paraplegia and psychomotor disabilities with or without seizures (SPPRS) (MedGen UID: 897828).

The HADH gene is associated with autosomal recessive medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (M/SCHAD) (MedGen UID: 266222).

The HADHA gene is associated with autosomal recessive long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (MedGen UID: 778253) and autosomal recessive mitochondrial trifunctional protein (MTP) deficiency (MedGen UID: 370665).

The HADHB gene is associated with autosomal recessive mitochondrial trifunctional protein deficiency (MedGen UID: 370665).

The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 898344). Additionally, the HARS gene has preliminary evidence supporting a correlation with Usher syndrome (PMID: 27353947, 22930593).

The HCN1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862968) and genetic epilepsy with febrile seizures plus (GEFS+) (MedGen UID: 943606)

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

The HDAC8 gene is associated with X-linked Cornelia de Lange syndrome (MedGen UID: 78752) and syndromic intellectual disability (ID) (PMID: 22889856, 29519750).

The HEXA gene is associated with autosomal recessive Tay-Sachs disease, also known as beta-hexosaminidase A (HEXA) deficiency (MedGen UID: 11713).

The HINT1 gene is associated with autosomal recessive neuromyotonia and axonal neuropathy (NMAN) (MedGen UID: 449355).

The HMBS gene is associated with autosomal dominant acute intermittent porphyria (AIP) (MedGen UID: 56452). Biochemical testing for urinary aminolevulinic acid (ALA) and/or porphobilinogen (PBG) levels should be considered in individuals with clinical suspicion of AIP (PMID: 15767622, 26366103).

The HNRNPA2B1 gene is associated with autosomal dominant inclusion body myopathy with early-onset Paget disease, with or without frontotemporal dementia 2 (IBMPFD2) (MedGen UID: 815798).

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

The HNRNPU gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1392637).

The HPCA gene is associated with autosomal recessive dystonia 2 (DYT2) (MedGen UID: 346511).

The HSPB1 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) (MedGen UID: 335784), also known as distal hereditary motor neuropathy 2B (HMN2B) (MedGen UID: 382017).

The HSPB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal hereditary motor neuropathy 2C (HMN2C) (MedGen UID: 461969).

The HSPB8 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) (MedGen UID: 324826), also known as distal hereditary motor neuropathy 2A (HMN2A) (MedGen UID: 322471).

The HSPD1 gene is associated with autosomal dominant hereditary spastic paraplegia 13 (SPG13) (MedGen UID: 344289) and autosomal recessive hypomyelinating leukodystrophy 4 (HLD4), also known as MitCHAP60 disease (Medgen UID: 383026).

The HTRA1 gene is associated with autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (CADASIL2) (MedGenUID: 895965) and autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) (MedGen UID: 325051).

The IBA57 is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 3 (MMDS3) (MedGen UID: 815495). Additionally, the IBA57 gene has preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia 74 (MedGen UID: 908839).

The IER3IP1 gene is associated with autosomal recessive microcephaly, epilepsy, and diabetes syndrome (MEDS) (MedGen UID: 481870).

The IGHMBP2 gene is associated with a spectrum of autosomal recessive neuropathies including Charcot-Marie-Tooth disease type 2S (CMT2S) (MedGen UID: 863786), also referred to as distal hereditary motor neuropathy 6 (HMN6) or distal spinal muscular atrophy 1 (DSMA1) (MedGen UID: 388083).

The ILK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17646580).

The INF2 gene is associated with autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID: 482475) and focal segmental glomerulosclerosis (FSGS5) (MedGen UID: 413315).

The IQSEC2 gene is associated with X-linked intellectual disability (MedGen UID: 444070).

The ISCU gene is associated with autosomal recessive hereditary myopathy with lactic acidosis (HML) (MedGen UID: 342573).

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

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

The ITM2B gene is associated with autosomal dominant cerebral amyloid angiopathy (MedGen UID: 396208, 358054). Additionally, the ITM2B gene has preliminary evidence supporting a correlation with autosomal dominant retinal dystrophy (MedGen UID: 863583).

The ITPA gene is associated with autosomal recessive inosine triphosphate pyrophosphohydrolase (ITPase) deficiency (MedGen UID: 452450).

The JMJD1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Rett syndrome (PMID: 26181491), intellectual disability and autism spectrum disorder (PMID: 26181491, 28554332).

The JPH2 gene 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).

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 KANSL1 gene is associated with autosomal dominant Koolen-de Vries syndrome (MedGen UID: 355853). In some individuals this gene is flanked by segmental duplications that overlap with KANSL1 exons 1-3 (PMID: 22751096). if in exons 2-3, check variant details and send back to VI if necessary, if in exons 4-15 remove ’s and send forward@@

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 epilepsy with or without ataxic episodes (PMID: 30055040, 11026449, 10355668).

The KCNA2 gene is associated with autosomal dominant and recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 909501; PMID: 27457812) and autosomal dominant hereditary spastic paraplegia and ataxia (PMID: 27543892).

The KCNB1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 863556).

The KCNC1 gene is associated with autosomal dominant progressive myoclonic epilepsy 7 (EPM7) (MedGen UID: 863857). Additionally, the KCNC1 gene has preliminary evidence supporting a correlation with autosomal dominant intellectual disability and dysmorphic features without seizures (PMID: 28145425).

The KCND2 gene is associated with autosomal dominant epilepsy and autism spectrum disorder (PMID: 24501278, Invitae).

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

The KCNH5 gene is associated with autosomal dominant developmental and epileptic encephalopathy (PMID: 23647072, 24133262).

The KCNJ10 gene is associated with autosomal recessive SeSAME syndrome (MedGen UID: 411243).

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

The KCNK18 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant migraine (MedGen UID: 462258).

The KCNMA1 gene is associated with autosomal dominant generalized epilepsy and paroxysmal dyskinesia (GEPD) (MedGen UID: 332144) and autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29545233, 27567911).

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

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

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

The KCTD17 gene is associated with autosomal dominant myoclonic dystonia 26 (DYT26) (MedGen UID: 904244).

The KCTD7 gene is associated with autosomal recessive progressive myoclonic epilepsy with or without intracellular inclusions (EPM3), also known as neuronal ceroid lipofuscinosis type 14 (CLN14) (MedGen UID: 388595).

The KDM5C gene is associated with X-linked intellectual disability, Claes-Jensen type (MedGen UID: 335139).

The KIDINS220 gene is associated with autosomal dominant spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) (MedGen UID: 924883). The KIDINS220 gene is also associated with an autosomal recessive congenital contracture syndrome (PMID: 28934391).

The KIF1A gene is associated with autosomal dominant hereditary spastic paraplegia 30 (SPG30) (PMID: 31488895) and complicated spastic paraplegia and intellectual disability 9 (ID9) (MedGen UID: 1714250). The KIF1A gene is also associated with autosomal recessive hereditary spastic paraplegia 30 (SPG30) (MedGen UID: 1710020) and hereditary sensory neuropathy type 2C (HSN2C) (MedGen UID: 481798).

The KIF1C gene is associated with autosomal recessive spastic ataxia type 2 (SPAX2) (MedGen UID: 370750).

The KIF5A gene is associated with autosomal dominant hereditary spastic paraplegia 10 (SPG10) (MedGen UID: 349003), Charcot-Marie-Tooth disease type 2 (CMT2) (MedGen UID: 1633598), amyotrophic lateral sclerosis 25 (ALS25) (MedGen UID: 1633917), intractable neonatal myoclonus (NEIMY) (MedGen UID: 934625). Additionally, the KIF5A gene has preliminary evidence supporting a correlation with autosomal dominant spinal muscular atrophy (PMID: 31612903).

The KLC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive spastic paraplegia, optic atrophy and neuropathy (SPOAN) (MedGen UID: 324411).

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

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

The KLHL9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant distal myopathy (MedGen UID: 1647584).

The KMT2B gene is associated with autosomal dominant childhood-onset dystonia (DYT28) (MedGen UID: 934600). Additionally, the KMT2B gene has preliminary evidence supporting a correlation with intellectual disability (PMID: 25405613).

The KPNA7 gene is associated with autosomal recessive infantile spasms, intractable epilepsy & cerebellar malformation (PMID: 24045845).

The KRIT1 gene is associated with autosomal dominant cerebral cavernous malformations (CCM) (MedGen UID: 237128).

The L1CAM gene is associated with X-linked L1 Syndrome (MedGen UID: 468441), which includes a spectrum of conditions ranging from complicated hereditary spastic paraplegia 1 (SPG1) (MedGen UID: 162894), X-linked hydrocephalus syndrome (HSAS) (MedGen UID: 75552), MASA syndrome (OMIM: 303350) to X-linked complicated corpus callosum agenesis (MedGen UID: 374339). Other L1CAM-related conditions have been reported (OMIM: 308840).

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

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).

The LAMB2 gene is associated with autosomal recessive nephrotic syndrome, type 5 (NPHS5) with or without ocular abnormalities (MedGen UID: 481743), and Pierson syndrome (MedGen UID: 373199). Additionally, the LAMB2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital myasthenic syndrome (PMID: 19251977).

The 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 LAS1L gene is associated with X-linked Wilson-Turner intellectual disability syndrome (MedGen UID: 333393). Additionally, the LAS1L gene has preliminary evidence supporting a correlation with X-linked congenital lethal motor neuron disease (PMID: 24647030).

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

The LDHA gene is associated with autosomal recessive lactate dehydrogenase A (LDHA) deficiency (MedGen UID: 416688).

The LGI1 gene is associated with autosomal dominant lateral temporal lobe epilepsy (ADLTE) (MedGen UID: 325326).

The LIAS gene is associated with autosomal recessive hyperglycinemia, lactic acidosis, and seizures (HGCLAS), also known as pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) (MedGen UID: 482517).

The LIMS2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive limb-girdle muscular dystrophy (MedGen UID: 897675).

The LITAF gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1C (CMT1C) (MedGen UID: 75728).

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).

The LMNB2 gene is associated with autosomal dominant primary microcephaly (PMID: 33033404). Additionally, the LMNB2 gene has preliminary evidence supporting a correlation with autosomal recessive progressive myoclonic epilepsy 9 (PME9) (MedGen UID: 901242) and autosomal dominant susceptibility to acquired partial lipodystrophy (APL) (MedGen UID: 66352).

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

The LPIN1 gene is associated with autosomal recessive acute recurrent myoglobinuria (MedGen UID: 340308). There is preliminary evidence suggesting heterozygous carriers may have mild muscular symptoms (PMID: 22481384, 18817903).

The LRP4 gene is associated with autosomal recessive Cenani-Lenz syndactyly syndrome (CLSS) (MedGen UID: 395226). Additionally, the LRP4 gene has preliminary evidence supporting a correlation with sclerosteosis 2 (SOST2) (MedGen UID: 482032) and autosomal recessive congenital myasthenic syndrome 17 (CMS17) (MedGen UID: 895078).

The LRRC10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 26017719).

The LRRK2 gene is associated with autosomal dominant Parkinson disease 8 (PARK8) (MedGen UID: 339628). Additionally, the LRRK2 gene has preliminary evidence supporting a correlation with autosomal dominant frontotemporal dementia (PMID: 17914064).

The LRSAM1 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2P (CMT2P) (MedGen UID: 482427).

The MAG gene is associated with autosomal recessive spastic paraplegia 75 (SPG75) (MedGen UID: 896387).

The MAP3K20 gene is associated with autosomal recessive centronuclear myopathy with fiber-type disproportion (MedGen UID: 1627492). Additionally, the MAP3K20 gene has preliminary evidence supporting a correlation with autosomal recessive split-foot malformation syndrome (MedGen UID: 898233).

The MAPT gene is associated with a spectrum of related autosomal dominant neurodegenerative conditions including frontotemporal dementia (FTD) (MedGen UID: 83266), Pick disease (MedGen UID: 116020), and progressive supranuclear palsy 1 (PSNP1) (MedGen UID: 1640811), collectively known as MAPT-related spectrum disorders (MedGen UID: 893467). Additionally, the MAPT gene has preliminary evidence supporting a correlation with susceptibility to late-onset Parkinson disease (MedGen UID: 463618) and with autosomal recessive Parkinson-dementia syndrome (MedGen UID: 342410).

The MARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) (MedGen UID: 906504) and autosomal recessive interstitial lung and liver disease (ILLD) (MedGen UID: 815981).

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

The MBD5 gene is associated with autosomal dominant intellectual disability (MedGen UID: 409857). Additionally, the MBD5 gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 23632792, 23055267).

The MCM3AP gene is associated with autosomal recessive peripheral neuropathy, with or without impaired intellectual development (PNRIID) (MedGen UID: 921982). Additionally, the MCM3AP gene has preliminary evidence supporting a correlation with autosomal dominant adenomatous polyposis (PMID: 25219767) and hypokalemic periodic paralysis (PMID: 31241196).

The MECP2 gene is associated with X-linked Rett syndrome / atypical Rett syndrome (MedGen UID: 48441) and X-linked MECP2 duplication syndrome (MedGen: 337496), a contiguous gene duplication involving MECP2 as well as other neighboring genes within Xq28.

The MECR gene is associated with autosomal recessive childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (DYTOABG) (MedGen UID: 934601).

The MED12 gene is associated with X-linked 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 MED20 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive infantile basal ganglia degeneration and brain atrophy (PMID: 25446406) and autosomal dominant congenital heart disease (PMID: 28991257).

The MED25 gene is associated with autosomal recessive Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) (MedGen UID: 897292). Additionally, the MED25 gene has preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease type 2B2 (CMT2B2) (MedGen UID: 381352).

The MEF2C gene is associated with autosomal dominant syndromic intellectual disability (MedGen UID: 462050).

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

The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A (CMT2A) (MedGen UID: 1648317, 934692), also known as hereditary motor and sensory neuropathy with optic atrophy (HMSN6A) (MedGen UID: 140747).

The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808).

The MICAL1 gene is associated with autosomal dominant familial temporal lobe epilepsy (ETL1) (MedGen UID: 1643229). Additionally, the MICAL1 gene currently has preliminary evidence supporting a correlation with autosomal dominant Charcot-Marie-Tooth disease (PMID: 26752306).

The MICU1 gene is associated with autosomal recessive myopathy with extrapyramidal signs (MPXPS) (MedGen UID: 816615).

The MME gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 2T (CMT2T) (MedGen UID: 864072). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant CMT2T (MedGen UID: 860472) and spinocerebellar ataxia 43 (SCA43) (MedGen UID: 934730).

The MOCS1 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 381530).

The MOCS2 gene is associated with autosomal recessive molybdenum cofactor deficiency (MedGen UID: 340760). Of note, the MOCS2 gene encodes two different proteins, MOCS2A and MOCS2B. Each protein is translated from alternate transcripts that have different open reading frames.

The MORC2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2Z (CMT2Z) (MedGen UID: 907298) and spinal muscular atrophy (PMID: 27794525, 28402445).

The MPZ gene is associated with a spectrum of autosomal dominant peripheral neuropathies including Charcot-Marie-Tooth disease types 1B (CMT1B) (MedGen UID: 124377), 2I (CMT2I) (MedGen UID: 854756), 2J (CMT2J) (MedGen UID: 375107), and dominant intermediate Charcot-Marie-Tooth disease (DI-CMTD) (MedGen UID: 334318).

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

The MTMR14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant centronuclear myopathy (MedGen UID: 1645741).

The MTMR2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B1 (CMT4B1) (MedGen UID: 321947).

The MTO1 gene is associated with autosomal recessive combined oxidative phosphorylation deficiency 10 (COXPD10) (MedGen UID: 766443).

The MTOR gene is associated with autosomal dominant Smith-Kingsmore syndrome (MedGen UID: 899689).

The MUSK gene is associated with autosomal recessive congenital myasthenic syndrome 9 (CMS9) (MedGen UID: 895641) and fetal akinesia deformation sequence 1 (FADS1) (MedGen UID: 220903).

The 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).

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

The MYH2 gene is associated with autosomal dominant and recessive proximal myopathy with ophthalmoplegia (MYPOP) (MedGen UID: 381340).

The 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).

The MYH7 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195), dilated cardiomyopathy (DCM) (MedGen UID: 37831), left ventricular noncompaction (LVNC) (MedGen UID: 349005), and Laing distal myopathy (MPD1) (MedGen UID: 449370). It is also associated with autosomal dominant and recessive myosin storage myopathy (MSMA) (MedGen UID:374868) and autosomal dominant scapuloperoneal myopathy (SPMM) (MedGen UID: 442146).

The MYL2 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 331754) and autosomal recessive early-onset MYL2-associated light chain myopathy (PMID: 23365102).

The MYL3 gene is associated with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 324806) and autosomal recessive restrictive cardiomyopathy (RCM) (PMID: 12021217).

The MYLK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (MedGen UID: 501195).

The MYO18B gene is associated with autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism (KFS4) (MedGen UID: 894399).

The MYOM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypertrophic cardiomyopathy (HCM) (PMID: 21256114).

The MYOT gene is associated with a spectrum of autosomal dominant neuromuscular conditions including myofibrillar myopathy 3 (MFM3) (MedGen UID: 811509), formerly known as limb-girdle muscular dystrophy type 1A (LGMD1A), and spheroid body myopathy (MedGen UID: 401082). Additionally, the MYOT gene has preliminary evidence supporting a correlation with autosomal recessive autosomal 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 NDRG1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4D (CMT4D) (MedGen UID: 371304).

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

The NEBL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 20951326).

The NECAP1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 862867).

The NEDD4L gene is associated with autosomal dominant periventricular nodular heterotopia (MedGen UID: 934636). Additionally, the NEDD4L gene has preliminary evidence supporting a correlation with autosomal dominant developmental and epileptic encephalopathy (PMID: 23934111).

The NEFH gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 2CC (CMT2CC) (MedGen UID: 934757). Additionally, the NEFH gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (ALS) (MedGen UID: 400169).

The NEFL gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2E (CMT2E) (MedGen UID: 375127) and type 1F (CMT1F) (MedGen UID: 334337).

The NEXMIF gene (formerly known as KIAA2022) is associated with X-linked intellectual disability 98 (IDX98) (MedGen UID: 813060).

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).

The NGF gene is associated with autosomal recessive hereditary sensory and autonomic neuropathy type 5 (HSAN5) (MedGen UID: 6916). Additionally, the NGF gene has preliminary evidence supporting a correlation with autosomal dominant hereditary sensory and autonomic neuropathy (PMID: 18420729).

The NGLY1 gene is associated with autosomal recessive NGLY1-congenital disorder of glycosylation (CDG-Iv) (MedGen UID 815321).

The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).

The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).

The NKX2-5 gene is associated with autosomal dominant tetralogy of Fallot (MedGen UID: 21498), conotruncal heart malformations (MedGen UID: 341803), hypoplastic left heart (MedGen UID: 482415), and atrial septal defect with or without atrioventricular conduction defects (MedGen UID: 400040). Additionally, the NKX2-5 gene has preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (PMID: 23661673), atrial fibrillation (MedGen UID: 445), and congenital hypothyroidism (MedGen UID: 482425).

The NKX6-2 gene is associated with autosomal recessive spastic ataxia with hypomyelinating leukodystrophy (SPAX8) (MedGen UID: 1382553).

The NODAL gene is associated with autosomal dominant heterotaxy (MedGen UID: 501198). Additionally, the NODAL gene has preliminary evidence supporting a correlation with autosomal dominant holoprosencephaly (MedGen UID: 38214; PMID: 19553149).

The NOTCH3 gene is associated with autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL1) (MedGen UID: 1634330) and lateral meningocele syndrome (LMS) (MedGen UID: 342070). Additionally, the NOTCH3 gene has preliminary evidence supporting a correlation with autosomal dominant infantile myofibromatosis 2 (IMF2) (MedGen UID: 815414) and autosomal recessive Sneddon syndrome (PMID: 32980981, 25870235).

The NPPA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant atrial fibrillation (MedGen UID: 394252) and autosomal recessive atrial dilated cardiomyopathy with atrial standstill (PMID: 23275345).

The NPRL3 gene is associated with autosomal dominant familial focal epilepsy with variable foci (FFEVF) (MedGen UID: 934675).

The NRXN1 gene is associated with autosomal recessive Pitt-Hopkins-like syndrome (MedGen UID: 482109). Additionally, the NRXN1 gene has preliminary evidence supporting a correlation with autism spectrum disorder (PMID: 26185613, 22542183) and schizophrenia (PMID: 24126932, 21424692).

The NT5C2 gene is associated with autosomal recessive hereditary spastic paraplegia 45 (SPG45) (MedGen UID: 854816).

The NTRK1 gene is associated with autosomal recessive congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type 4 (HSAN4) (MedGen UID: 6915). Additionally, the NTRK1 gene has preliminary evidence supporting a correlation with autosomal recessive osteogenesis imperfecta (PMID: 28116328).

The NUS1 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (PMID: 29100083). Additionally, the NUS1 gene has preliminary evidence supporting a correlation with autosomal recessive NUS1-related congenital disorder of glycosylation (NUS1-CDG) (PMID: 25066056).

The OPA1 gene is associated with autosomal dominant hereditary optic atrophy (OPA) (MedGen UID: 137902), optic atrophy plus syndrome (DOA+) (MedGen UID: 478179), autosomal dominant mitochondrial DNA depletion syndrome, and autosomal recessive Behr syndrome (MedGen UID: 66358). Additionally, the OPA1 gene has preliminary evidence supporting a correlation with autosomal recessive infantile mitochondrial encephalomyopathy hypertrophic cardiomyopathy with optic atrophy (MedGen UID: 903789).

The OPA3 gene is associated with autosomal recessive 3-methylglutaconic aciduria, type III (formerly known as Costeff syndrome) (MedGen UID: 108273) and autosomal dominant optic atrophy and cataract (MedGen UID: 371657).

The OPTN gene is associated with autosomal dominant and recessive amyotrophic lateral sclerosis 12 (ALS12) (MedGen UID: 462042). The OPTN gene is also associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 87389).

The ORAI1 gene is associated with autosomal dominant tubular aggregate myopathy 2 (TAM2) (MedGen UID: 860163) and autosomal recessive ORAI1 deficiency (MedGen UID: 440578).

The PACS1 gene is associated with autosomal dominant Schuurs-Hoeijmakers syndrome (MedGen UID: 767257).

The PANK2 gene is associated with autosomal recessive pantothenate kinase-associated neurodegeneration (PKAN) (MedGen UID: 6708).

The PARK7 gene (previously known as DJ1) is associated with autosomal recessive Parkinson disease 7 (PARK7) (MedGen UID: 344049).

The 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 PDCD10 gene is associated with autosomal dominant cerebral cavernous malformations (MedGen UID: 355121).

The PDE8B gene is associated with autosomal dominant striatal degeneration type 1 (ADSD1) (MedGen UID: 934775). Additionally, the PDE8B gene has preliminary evidence supporting a correlation with autosomal dominant primary pigmented nodular adrenocortical disease (MedGen UID: 481724).

The PDK3 gene is associated with X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) (MedGen UID: 813032).

The PDLIM3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant dilated cardiomyopathy (DCM) (PMID: 17254821), hypertrophic cardiomyopathy (HCM) (PMID: 20801532), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 11329061).

The PDSS2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766272).

The PFKM gene is associated with autosomal recessive glycogen storage disease type VII (GSD7) (MedGen UID: 5342).

The PFN1 gene is associated with autosomal dominant amyotrophic lateral sclerosis 18 (ALS18) (MedGen UID: 766633). Additionally, the PFN1 gene has preliminary evidence supporting a correlation with autosomal dominant Paget disease of bone (PMID: 32392277).

The PGAM2 gene is associated with autosomal recessive glycogen storage disease type X (GSD X) (MedGen UID: 120613).

The PGAP1 gene is associated with autosomal recessive intellectual disability (MedGen UID: 862780). Additionally, the PGAP1 gene has preliminary evidence supporting a correlation with autosomal recessive hereditary spastic paraplegia (PMID: 24482476).

The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166).

PGM1 is associated with autosomal recessive PGM1-congenital disorder of glycosylation (CDG-It) (MedGen UID 766970).

The PHKA1 gene is associated with X-linked recessive glycogen storage disease type IXd (GSD IXd) (MedGen UID: 335112).

The PHKB gene is associated with autosomal recessive glycogen storage disease type IXb (GSD IXb) (MedGen UID: 337918).

The PIGA gene is associated with X-linked PIGA-congenital disorder of glycosylation (MedGen UID: 477139).

The PIGG gene is associated with autosomal recessive PIGG-congenital disorder of glycosylation (PIGG-CDG) (PMID: 26996948, 28581210).

The PIGN gene is associated with autosomal recessive PIGN-congenital disorder of glycosylation (MedGen UID: 481405).

The PIGO gene is associated with autosomal recessive PIGO-congenital disorder of glycosylation (MedGen UID: 766551).

The PIGQ gene is associated with autosomal recessive PIGQ-congenital disorder of glycosylation (MedGen UID: 945249).

The PIK3AP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile spasms (PMID: 25262651).

The PINK1 gene is associated with autosomal recessive early-onset Parkinson disease 6 (PARK6) (MedGen UID: 342982). Additionally, the PINK1 gene has preliminary evidence supporting a correlation with autosomal dominant Parkinson disease (PMID: 20461815).

The PKP2 gene is associated with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (MedGen UID: 373205) and dilated cardiomyopathy (DCM) (PMID: 20716751). Additionally, the PKP2 gene has preliminary evidence supporting a correlation with autosomal dominant Brugada syndrome (PMID: 24352520).

The PLA2G6 gene is associated with a spectrum of autosomal recessive conditions including PLA2G6-associated neurodegeneration (PLAN) (MedGen UID: 831067), neuroaxonal dystrophy (NAD) (MedGen UID: 82852), and Parkinson disease 14 (PARK14) (MedGen UID: 414488).

The PLCB1 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462338).

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 PLEKHG5 gene is associated with a spectrum of autosomal recessive neuropathies including intermediate Charcot-Marie-Tooth disease type C (CMTRIC) (MedGen UID: 815639), also referred to as distal spinal muscular atrophy 4 (DSMA4) (MedGen UID: 369682).

The PLEKHM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy and left ventricular noncompaction (PMID: 26464484).

The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782) 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).

The PLP1 gene is associated with a spectrum of X-linked conditions including hereditary spastic paraplegia 2 (SPG2) (MedGen UID: 374177) and hypomyelinating leukodystrophy type 1 (HLD1), also known as Pelizaeus-Merzbacher disease (PMD) (MedGen UID: 61440).

The PMP2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1G (CMT1G) (MedGen UID: 1648290).

The PMP22 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1A (CMT1A) (MedGen UID: 75727), CMT type 1E (CMT1E) (MedGen UID: 501212), and hereditary neuropathy with liability to pressure palsies (HNPP) (MedGen UID: 98291). Other PMP22-related disorders have also been reported (OMIM 601097).

The PNKD gene is associated with autosomal dominant paroxysmal nonkinesigenic dyskinesia 1 (PNKD1) (MedGen UID: 1631383). Additionally, the PNKD gene has preliminary evidence supporting a correlation with Tourette syndrome (PMID: 28894297).

The PNKP gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 462017) and ataxia with oculomotor apraxia 4 (AOA4) (MedGen UID: 902323).

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