Pediatric Genetics

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

The AAGAB gene is associated with autosomal dominant keratosis palmoplantaris papulosa (MedGen UID: 372099).

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 AARS2 gene is associated with autosomal recessive progressive leukoencephalopathy with ovarian failure (LKENP) (MedGen UID: 863025), and autosomal recessive combined oxidative phosphorylation deficiency 8 (COXPD8) (MedGen UID: 481423).

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

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

The ABCA12 gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 108615, 371355).

The ABCA3 gene is associated with a spectrum of autosomal recessive pulmonary diseases, including pulmonary surfactant metabolism dysfunction (MedGen UID: 410074), pediatric interstitial lung disease (PMID: 15976379), and pulmonary fibrosis (PMID: 24730976), and with autosomal dominant cataract-microcornea syndrome (PMID: 25406294).

The ABCA4 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 349030), Stargardt disease (STGD) (MedGen UID: 383691), and retinitis pigmentosa (RP) (MedGen UID: 400996). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration (ARMD) (PMID: 10880298).

The ABCB6 gene has preliminary evidence supporting a correlation with autosomal dominant microphthalmia (PMID: 22226084, 30653986).

The ABCC6 gene is associated with autosomal recessive pseudoxanthoma elasticum (PXE) (MedGen UID: 18733).

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 ABHD12 gene is associated with autosomal recessive polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) (MedGen UID: 436373).

The ABHD5 gene is associated with autosomal recessive Chanarin-Dorfman syndrome (CDS) (MedGen UID: 82780).

The ABL1 gene is associated with an autosomal dominant congenital heart defects and skeletal malformations syndrome (MedGen UID: 1618340).

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

The ACADS gene is associated with autosomal recessive short chain acyl-CoA dehydrogenase (SCAD) deficiency (MedGen UID: 90998), a biochemical phenotype which may or may not result in a clinical condition.

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

The ACAN gene is associated with a spectrum of autosomal dominant skeletal conditions ranging from nonsyndomic short stature (MedGen UID: 777109) to spondyloepiphyseal dysplasia, Kimberley type (SEDK) (MedGen UID: 330777). Additionally, the ACAN gene has preliminary evidence supporting a correlation with autosomal recessive spondyloepimetaphyseal dysplasia (MedGen UID: 411237).

The ACAT1 gene is associated with autosomal recessive beta-ketothiolase deficiency (aka mitochondrial acetoacetyl-CoA thiolase deficiency) (MedGen UID: 280689).

The ACBD5 gene is associated with an autosomal recessive syndrome involving cone-rod dystrophy and white matter disease (PMID: 23105016, 27799409).

The ACE gene is associated with autosomal recessive renal tubular dysgenesis (MedGen UID: 82738).

The ACER3 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with leukodystrophy (MedGen UID 1622324).

The ACO2 gene is associated with autosomal recessive infantile cerebellar-retinal degeneration (ICRD) (MedGen UID: 482822). Additionally, the ACO2 gene has preliminary evidence supporting a correlation with autosomal recessive optic atrophy (PMID: 25351951) and epilepsy (PMID: 26795593).

The ACOX1 gene is associated with autosomal recessive acyl-CoA oxidase deficiency (also known as pseudoneonatal adrenoleukodystrophy) (MedGen UID: 376636) and autosomal dominant axonal neuropathy (also known as Mitchell syndrome) (MedGen UID: 1714342).

The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).

The ACTA2 gene is associated with autosomal dominant thoracic aortic aneurysms and dissections (TAAD) (MedGen UID: 435866). Other ACTA2-related conditions have been reported (MedGen UID: 462551).

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

The ACTC1 gene is associated with autosomal dominant atrial septal defects (ASD) (MedGen UID: 412580), hypertrophic cardiomyopathy (HCM) (MedGen UID: 436962), dilated cardiomyopathy (DCM) (MedGen UID: 462031) 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 ACTN4 gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 1636833).

The ACVR1 gene is associated with autosomal dominant fibrodysplasia ossificans progressiva (FOP) (MedGen UID: 4698).

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

The ACY1 gene is associated with autosomal recessive aminoacylase-1 deficiency (MedGen UID: 324393).

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

The ADAMTS17 gene is associated with autosomal recessive Weill-Marchesani-like syndrome (MedGen UID: 416383).

The ADAMTS18 gene is associated with autosomal recessive microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) (MedGen UID: 815897).

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

The ADAMTS9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive ciliopathy (PMID: 30609407).

The ADAMTSL4 gene is associated with autosomal recessive isolated ectopia lentis (MedGen UID: 762100).

The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071) and autosomal recessive Aicardi Goutieres syndrome (AGS) (MedGen UID: 761287).

The ADCY1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive deafness (MedGen UID: 341854).

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

The ADD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with spastic quadriplegic cerebral palsy (MedGen UID: 442852) and multiple congenital anomalies (PMID: 29768408).

The ADGRG1 gene is associated with autosomal recessive polymicrogyria (MedGen UID: 816735, 376107).

The ADGRV1 gene is associated with autosomal recessive Usher syndrome type 2C (MedGen UID: 419359) and retinitis pigmentosa (PMID: 26667666). Additionally, the ADGRV1 gene has preliminary evidence supporting a correlation with autosomal dominant epilepsy (PMID: 29266188).

The ADK gene is associated with autosomal recessive adenosine kinase deficiency (MedGen UID: 482011).

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

The AEBP1 gene is associated with autosomal recessive classical-like Ehlers-Danlos syndrome type 2 (MedGen UID: 1632001).

The AFF4 gene is associated with autosomal dominant CHOPS syndrome (cognitive impairment and coarse facies, heart defects, obesity, pulmonary involvement, short stature and skeletal dysplasia) (MedGen UID: 894554).

The AGA gene is associated with autosomal recessive aspartylglucosaminuria (AGU) (MedGen UID: 78649).

The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID: 395228). Additionally, the AGK gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic congenital cataracts (PMID: 22415731).

The AGPS gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata type 3 (RCDP) (MedGen UID: 374012).

The AGT gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

The AGTR1 gene is associated with autosomal recessive renal tubular dysgenesis (RTD) (MedGen UID: 82738).

The AHDC1 gene is associated with autosomal dominant Xia-Gibbs syndrome (MedGen UID: 862856).

The AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).

The AIFM1 gene is associated with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), also known as Cowchock syndrome (MedGen UID: 162891), X-linked spondylometaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) (MedGen UID: 335350) 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 AIMP1 gene is associated with autosomal recessive hypomyelinating leukodystrophy 3 (HLD3) (MedGen UID: 342403).

The AIMP2 gene is associated with autosomal recessive hypomyelinating leukodystrophy-17 (HLD17) (MedGen UID: 1644557).

The AIP gene is associated with predisposition to autosomal dominant familial isolated pituitary adenoma (FIPA) (MedGen UID: 489979).

The AIPL1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 346808). Additionally, the AIPL1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 20702822, 21474771) and cone-rod dystrophy (PMID: 26103963, 10873396).

The AK7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive male infertility (MedGen UID: 1634748). Other AK7-related conditions have been reported (PMID: 22801010).

The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome (PMID: 23246288). AKT1 is also associated with Proteus syndrome (MedGen UID: 39008); however this condition is due to a specific AKT1 variant, c.49G>A, when present as somatic mosaicism.

The AKT2 gene is associated with autosomal dominant hypoinsulinemic hypoglycemia with hemihypertrophy (HIHGHH) (MedGen UID: 343429). Additionally, the AKT2 gene has preliminary evidence supporting a correlation with autosomal dominant diabetes mellitus, type II (MedGen UID: 41523).

The AKT3 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863175).

The ALB gene is associated with autosomal recessive analbuminemia (MedGen UID: 164210), and autosomal dominant dysalbuminemic hyperthyroxinemia (MedGen UID: 90974).

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 ALDH1A3 gene is associated with autosomal recessive isolated microphthalmia-8 (MCOP8) (MedGen UID: 767438).

The ALDH3A2 gene is associated with autosomal recessive Sjögren-Larsson syndrome (SLS) (MedGen UID: 11443).

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

The ALDH6A1 gene is associated with autosomal recessive methylmalonate semialdehyde dehydrogenase deficiency (MedGen UID: 481470).

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

ALG1 is associated with autosomal recessive ALG1-congenital disorder of glycosylation (CDG-Ik) (MedGen UID 332969).

The ALG12 gene is associated with autosomal recessive ALG12-congenital disorder of glycosylation (CDG-Ig) (MedGen UID 443954).

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

The 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 ALG6 gene is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).

The ALG8 gene is associated with autosomal recessive ALG8-congenital disorder of glycosylation (CDG-Ih) (MedGen UID 374956). Additionally, the ALG8 gene has preliminary evidence supporting a correlation with polycystic liver disease (PMID: 28375157).

The ALK gene is associated with autosomal dominant predisposition to neuroblastoma (MedGen UID: 414083).

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

The ALOX12B gene is associated with autosomal recessive congenital ichthyosis (MedGen UID: 854762).

The ALOXE3 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen UID: 383774).

The ALPL gene is associated with autosomal dominant and recessive hypophosphatasia (MedGen UID: 43799).

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 AMER1 gene is associated with X-linked dominant osteopathia striata with cranial sclerosis (OSCS) (MedGen UID: 96590).

The AMH gene is associated with autosomal recessive persistent Müllerian duct syndrome (PMDS) (MedGen UID: 342367).

The AMHR2 gene is associated with autosomal recessive persistent Mullerian duct syndrome (MedGen UID: 342367).

The AMN gene is associated with autosomal recessive Imerslund-Gräsbeck syndrome (MedGen UID: 224934).

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 ANK3 gene is associated with an autosomal recessive intellectual disability syndrome (MedGen UID: 816002). Additionally, the ANK3 gene has preliminary evidence supporting a correlation with autosomal dominant Tourette syndrome (MedGen UID: 21219) and a spectrum of autosomal dominant neurodevelopmental and cardiac disorders (PMID: 28687526, 28991257).

The ANKH gene is associated with autosomal dominant craniometaphyseal dysplasia (CMD) (MedGen UID: 338945) and chondrocalcinosis (MedGen UID: 163633).

The ANKRD11 gene is associated with autosomal dominant KBG syndrome (MedGen UID: 66317) and Cornelia de Lange Syndrome (CdLS) (PMID: 25652421, 25125236).

The ANKS6 gene is associated with autosomal recessive nephronophthisis (NPHP16) (MedGen UID: 815650).

The ANLN gene is associated with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 863430). Additionally, the ANLN gene has preliminary evidence supporting a correlation with autosomal dominant branchio‐otic syndrome (PMID: 30548429).

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 ANOS1 gene is associated with X-linked Kallmann syndrome (MedGen UID: 295872).

The AP1S1 gene is associated with autosomal recessive intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma, also known as MEDNIK syndrome (MedGen UID: 833683).

The AP1S2 gene is associated with X-linked recessive Pettigrew syndrome (MedGen UID: 162924).

The AP2M1 gene is associated with autosomal dominant intellectual disability and epilepsy (MedGen UID: 1684702).

The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 2 (MedGen UID: 374912).

The AP3B2 gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 934604).

The AP3D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 36313). Additionally, the AP3D1 gene has preliminary evidence supporting a correlation with autosomal dominant schizophrenia (PMID: 24463507) and autosomal dominant autism spectrum disorder (PMID: 25363768, 29346770).

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 APC gene is associated with autosomal dominant familial adenomatous polyposis (FAP) (MedGen UID: 398651), attenuated FAP (AFAP) (MedGen UID: 436213) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) (PMID: 27087319).

Specific variants in APOL1, commonly referred to as the “G1” and “G2” alleles, are associated with an increased risk for focal segmental glomerulosclerosis (FSGS) and other forms of kidney disease (PMID: 20647424, 20635188). Other variants in this gene do not have an established association with disease.

The APOPT1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

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

The APTX gene is associated with autosomal recessive ataxia with oculomotor apraxia type 1 (AOA1) (MedGen UID: 395301).

The AQP5 gene is associated with autosomal dominant diffuse palmoplantar keratoderma, Bothnian type (MedGen UID: 325011).

The AR gene is associated with X-linked androgen insensitivity syndrome (AIS) (MedGen UID: 21102) and Kennedy spinal and bulbar muscular atrophy (SBMA) (MedGen UID: 333282). Kennedy SBMA disease-related polyglutamine repeat expansions are not currently analyzed by this assay.

The ARCN1 gene is associated with autosomal dominant rhizomelic short stature with microcephaly, micrognathia and developmental delay (SRMMD) (MedGen UID: 934653).

The ARFGEF2 gene is associated with autosomal recessive periventricular heterotopia (MedGen UID: 334110).

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

The ARHGAP24 gene is associated with autosomal dominant nephrotic syndrome (MedGen UID: 890751).

The ARHGAP31 gene is associated with autosomal dominant Adams-Oliver syndrome (AOS) (MedGen UID: 472018). Additionally, the ARHGAP31 gene has preliminary evidence supporting a correlation with autosomal dominant left ventricular outflow tract obstruction (PMID: 27760138).

The ARHGDIA gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 815283).

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 ARID1A gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 766161).

The ARID1B gene is associated with autosomal dominant Coffin-Siris syndrome (MedGen UID: 482831).

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

The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).

The ARL3 gene is associated with with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1648404) and autosomal recessive Joubert syndrome (MedGen UID: 1648453).

The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).

The ARMC4 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 815878).

The ARMC9 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 945537).

The ARNT2 gene is associated with autosomal recessive Webb-Dattani syndrome (MedGen UID: 863145).

The ARSA gene is associated with autosomal recessive metachromatic leukodystrophy (MLD) (MedGen UID: 6071). Biochemical testing for arylsulfatase A (ARSA) enzyme activity and urine sulfatides should be considered in individuals with clinical suspicion of metachromatic leukodystrophy (PMIDs: 4953831, 4192207, 6054756).

The ARSB gene is associated with autosomal recessive mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (MedGen UID: 44514).

The ARSL gene, also known as ARSE, is associated with X-linked recessive chondrodysplasia punctata (MedGen UID: 337102).

The ARSG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Usher syndrome (PMID: 26975023, 29300381).

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 ASCC1 gene is associated with autosomal recessive spinal muscular atrophy with congenital bone fractures 2 (SMABF2) (MedGen UID: 907910).

The ASL gene is associated with autosomal recessive argininosuccinate lyase deficiency (MedGen UID: 78687).

The ASNS gene is associated with autosomal recessive asparagine synthetase (ASNS) deficiency (MedGen UID: 816301).

The ASPA gene is associated with autosomal recessive Canavan disease (MedGen UID: 61565).

The ASPM gene is associated with autosomal recessive primary microcephaly (MedGen UID: 373344).

The ASS1 gene is associated with autosomal recessive citrullinemia type I (MedGen UID: 104491).

The ASXL1 gene is associated with autosomal dominant Bohring-Opitz syndrome (BOS), which is also known as C-like syndrome (MedGen UID: 208678).

The ASXL2 gene is associated with autosomal dominant Shashi-Pena syndrome (MedGen UID: 934639).

The ATAD1 gene is associated with autosomal recessive hyperekplexia-4 (MedGen UID: 1642659).

The ATM gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 26483394) and possibly prostate cancer (PMID: 27989354, 28657667) in addition to autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). There is also preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach (PMID: 30657113), ovarian (PMID: 28888541, 30733081), bladder (PMID: 26662178, 31844177) and colon (PMID: 30862463); although available evidence is insufficient to make a determination regarding these relationships.

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 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 ATP2B2 gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 330455). Additionally, the ATP2B2 gene has preliminary evidence supporting a correlation with an autosomal dominant intellectual disability syndrome with ataxia and brain abnormalities (PMID: 29655659) as well as an association with autosomal dominant autism (PMID: 29346770, 25363768).

The ATP2C1 gene is associated with autosomal dominant familial benign pemphigus, also known as Hailey-Hailey disease (MedGen UID: 43100).

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

ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID 82795, 98030).

The ATP6V1A gene is associated with autosomal dominant childhood onset epileptic encephalopathy (EEOC) (MedGen UID: 1626137) and autosomal recessive cutis laxa type IID (ARCL2D) (MedGen UID: 1376619).

The ATP6V1B1 gene is associated with autosomal recessive distal renal tubular acidosis (dRTA) with progressive nerve deafness (MedGen UID: 98336).

The ATP6V1E1 gene is associated with autosomal recessive cutis laxa type IIC (ARCL2C) (MedGen UID: 1385755).

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

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

The ATP8A2 gene is associated with autosomal recessive cerebellar ataxia, intellectual disability and dysequilibrium syndrome 4 (CAMRQ4) (MedGen UID: 815307).

The ATPAF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (MedGen UID: 398105).

The ATR gene is associated with autosomal recessive Seckel syndrome 1 (MedGen UID: 830512). Additionally, there is preliminary evidence that ATR is associated with autosomal dominant predisposition to prostate (PMID: 27433846) and oropharyngeal cancer (PMID: 22341969). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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

The AUH gene is associated with autosomal recessive 3-methylglutaconic aciduria type 1 (MedGen UID: 473073).

The AXIN2 gene is associated with autosomal dominant oligodontia-colorectal cancer syndrome (MedGen UID: 324868).

The AXL gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 87440).

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

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

The B3GAT3 gene is associated with the autosomal recessive multiple joint dislocations, short stature and craniofacial dysmorphism with or without congenital heart defects (JDSCD) (MedGen UID: 480034).

The B3GLCT gene is associated with autosomal recessive Peters-plus syndrome also known as B3GLCT-congenital disorder of glycosylation (Medgen UID: 163204).

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

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

The B9D1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 934673).

The B9D2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

The BAP1 gene is associated with autosomal dominant BAP1 tumor predisposition syndrome (MedGen UID: 482122). There is additional evidence to suggest BAP1 is associated with risk of meningioma (PMID: 26140217, 21941004). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

The BBIP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 807640).

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452) and non-syndromic retinitis pigmentosa (PMID: 23143442, 27032803, 21520335).

The BBS10 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347909).

The BBS12 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347910).

The BBS2 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422453) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 906896).

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 423627). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive inherited retinal disease (PMID: 22219648, 26355662).

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141). Additionally, the BBS5 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa (PMID: 24154662, 28041643).

The BBS7 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347180).

The BBS9 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347182). Additionally, the BBS9 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 28981474).

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

The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

The BCKDHB gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

The BCL11B gene is associated with autosomal dominant BCL11B deficiency (MedGen UID: 934623).

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

The BCS1L gene is associated with autosomal recessive mitochondrial complex III deficiency, nuclear type 1 (MC3DN1) (MedGen UID: 762097), Bjornstad syndrome (MedGen UID: 82728), and GRACILE syndrome (MedGen UID: 400428).

The BEST1 gene is associated with autosomal dominant vitreoretinochoroidopathy (ADVIRC) (MedGen UID: 854768) and atypical vitelliform macular dystrophy (VMD1) (MedGen UID: 1636950). Additionally, the BEST1 gene is associated with autosomal recessive bestrophinopathy (ARB) (MedGen ID: 854806). There is also preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 25999674, 28512305, 28559085).

The BFSP1 gene is associated with autosomal dominant congenital cataracts (PMID: 24379646) and autosomal recessive congenital cataracts (MedGen UID: 814437).

The BFSP2 gene is associated with autosomal dominant and recessive congenital cataracts (MedGen UID: 814445, PMID: 21836522, 22935719).

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

The BHLHA9 gene is associated with autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction (MedGen UID: 324459). Additionally, the BHLHA9 gene has preliminary evidence supporting a correlation with autosomal recessive complex camptosynpolydactyly (MedGen UID: 375276).

The BICC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cystic renal dysplasia (PMID: 21922595, 28566479).

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685). Studies have suggested BLM may also be associated with an increased risk for autosomal dominant predisposition to colorectal cancer (PMID: 12242432, 26358404, 12702560, 18210922). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

The BLOC1S3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854728).

The BLOC1S6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 9 (MedGen UID: 481656).

The BMP1 gene is associated with autosomal recessive osteogenesis imperfecta (MedGen UID: 766801).

The BMP2 gene is associated with autosomal dominant short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (MedGen UID: 1635916). Additionally, the BMP2 gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly type A2 (MedGen UID: 318690).

The BMP4 gene is associated with autosomal dominant microphthalmia (MCOP) (MedGen UID: 355268). Additionally, the BMP4 gene has preliminary evidence supporting a correlation with autosomal dominant orofacial clefting (PMID: 19249007, 21340693) and tooth agenesis (PMID: 31128441).

The BMPER gene is associated with autosomal recessive diaphanospondylodysostosis (MedGen UID: 374993).

The BMPR1A gene is associated with autosomal dominant juvenile polyposis syndrome (JPS) (MedGen UID: 87518).

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

The BNC2 gene is associated with autosomal dominant congenital lower urinary tract obstruction (LUTO) (MedGen UID: 945408).

The BOLA3 gene is associated with autosomal recessive multiple mitochondrial dysfunctions syndrome 2 (MMDS2) (MedGen UID: 482008).

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

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 BRWD3 gene is associated with X-linked intellectual disability (MedGen UID: 410164).

The BSND gene is associated with autosomal recessive Bartter syndrome type 4a (BARTS4A) (MedGen UID: 355430) and non-syndromic deafness (PMID: 19646679, 24949729).

The BTD gene is associated with autosomal recessive biotinidase deficiency (MedGen UID: 66323).

The BTRC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant split hand/foot malformation (PMID: 27600068).

The LRMDA gene (formerly known as C10orf11) is associated with autosomal recessive oculocutaneous albinism, type 7 (MedGen UID: 815116).

The CFAP300 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 1648465).

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 C1QTNF5 gene is associated with autosomal dominant late-onset retinal degeneration (LORD) (MedGen UID: 344198).

The C1S gene is associated with autosomal recessive C1s deficiency (MedGen UID: 462428) and autosomal dominant periodontal Ehlers-Danlos syndrome (pEDS) (MedGen UID: 934648).

The C2CD3 gene is associated with autosomal recessive oral-facial-digital syndrome type 14 (OFD14) (MedGen UID: 799885) and Joubert syndrome (PMID: 26477546, 2692869).

The C8orf37 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 482675) and retinitis pigmentosa (RP) (MedGen UID: 20551). Additionally, the C8orf37 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet Biedl syndrome (BBS) (PMID: 27008867).

The CA2 gene is associated with autosomal recessive carbonic anhydrase 2 (CA2) deficiency (MedGen UID: 91042).

The CABP2 gene is associated with autosomal recessive deafness (MedGen UID: 854875).

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

The CACNA1E gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 1648381).

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

The CACNB4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (MedGen UID: 413424) and episodic ataxia, type 5 (EA5) (MedGen UID: 356142).

The CAD gene is associated with autosomal recessive developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 904125). Additionally, the CAD gene has preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder with abnormal glycosylation, and congenital heart disease with neurodevelopmental disability (PMID: 25678555, 28191890, 26785492).

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

The CANT1 gene is associated with autosomal recessive Desbuquois dysplasia (MedGen UID: 98479).

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 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 CAST gene is associated with autosomal recessive PLACK (Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads) syndrome (MedGen UID: 902464). Additionally, the CAST gene has preliminary evidence supporting a correlation with keratoconus (PMID: 29924831).

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 CBX2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive 46,XY sex reversal (PMID: 19361780).

The CC2D2A gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322) and autosomal recessive retinal dystrophy (PMID: 30267408).

The CCDC103 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 762261).

The CCDC114 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 761920).

The CCDC141 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hypogonadotropic hypogonadism with or without anosmia (MedGen UID: 87440).

The CCDC151 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 807540).

The CCDC39 gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 462486).

The CCDC40 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 462487).

The CCDC50 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness 44 (MedGen UID: 334525).

The CCDC65 gene is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816031).

The CCDC8 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 481776).

The CCDC88A gene is associated with autosomal recessive progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome (PEHO-like syndrome) (MedGen UID: 337956). Additionally, the CCDC88A gene has preliminary evidence supporting a correlation with autistic spectrum/developmental delay (PMID: 28191890, 28135719).

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

The CCND2 gene is associated with autosomal dominant megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MedGen UID: 863179).

The CCNO gene is associated with autosomal recessive primary ciliary dyskinesia (PCD) (MedGen UID: 862971).

The CCNQ gene (formerly known as FAM58A) is associated with X-linked dominant STAR syndrome (MedGen UID: 394424).

The CD151 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness (MedGen UID: 323004).

The CD164 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (MedGen UID: 924418, PMID: 26197441).

The CD2AP gene is associated with autosomal dominant and recessive focal segmental glomerulosclerosis (FSGS) (MedGen UID: 335850).

The CD40 gene is associated with autosomal recessive hyper IgM syndrome (HIGM) (MedGen UID: 328419).

The CD40LG gene is associated with X-linked hyper-IgM syndrome (HIGM) (MedGen UID: 96019).

The CD96 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant C syndrome (MedGen UID: 167105).

The CDC14A gene is associated with autosomal recessive deafness (MedGen UID: 373370).

The CDC45 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 934705).

The CDC6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462476).

The CDC73 gene is associated with autosomal dominant hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma and familial isolated hyperparathyroidism (FIH) (MedGen UID: 310065, 146361, 333554), collectively referred to as CDC73-related conditions. There are data suggesting CDC73 may also be associated with autosomal dominant predisposition to malignant uterine tumors (PMID: 23293331, 12434154, 23029104). The evidence, however, is preliminary and insufficient to make a determination regarding this relationship.

The CDH23 gene is associated with autosomal recessive Usher syndrome type I (USH1) (MedGen UID: 322051) and autosomal recessive deafness (MedGen UID: 330455).

The CDH3 gene is associated with autosomal recessive congenital hypotrichosis with juvenile macular dystrophy (HJMD) (MedGen UID: 316921) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) (MedGen UID: 341679). Additionally, the CDH3 gene has preliminary evidence supporting a correlation with autosomal recessive isolated retinitis pigmentosa (PMID: 26306921).

The CDK5 gene is associated with autosomal recessive lissencephaly with cerebellar hypoplasia (MedGen UID: 895680).

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

The CDKN1C gene is associated with autosomal dominant Beckwith-Wiedemann syndrome (BWS) (MedGen UID: 2562) and IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) (MedGen UID: 337364).

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

The CDSN gene is associated with autosomal recessive peeling skin syndrome (MedGen UID: 336530) and autosomal dominant hypotrichosis simplex (MedGen UID: 374435).

The CDT1 gene is associated with autosomal recessive Meier-Gorlin syndrome (MedGen UID: 462470).

The CEACAM16 gene is associated with autosomal dominant deafness (MedGen UID: 482927) and autosomal recessive deafness (MedGen UID: 941379).

The CEBPA gene is associated with autosomal dominant predisposition to familial acute myeloid leukemia (AML) (MedGen UID: 9730).

The CENPF gene is associated with autosomal recessive Stromme syndrome (MedGen UID: 340938).

The CENPJ gene is associated with autosomal recessive primary microcephaly 6 (MCPH6) (MedGen UID: 330770) and Seckel syndrome 4 (SCKL4) (MedGen UID: 442100).

The CEP104 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 852392).

The CEP120 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 1618082) and short-rib thoracic dysplasia with or without polydactyly (SRTD) (MedGen UID: 898712).

The CEP135 gene is associated with autosomal recessive primary microcephaly and Seckel syndrome spectrum disorders (MedGen UID: 766328).

The CEP152 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 462537).

The CEP164 gene is associated with a spectrum of autosomal recessive conditions including nephronophthisis (MedGen UID: 762112) and Senior Loken syndrome (PMID: 22863007).

The CEP19 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 816654).

The CEP250 gene is associated with autosomal recessive Usher syndrome (PMID: 24780881).

The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672) and Joubert syndrome (MedGen UID: 347545). Additionally, the CEP290 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 393033).

The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).

The CEP55 gene is associated with an autosomal recessive Joubert syndrome and related disorders (JSRD), also known as MARCH (MedGen UID: 343465).

The CEP63 gene is associated with autosomal recessive Seckel syndrome (MedGen UID: 766496). Additionally, the CEP63 gene has preliminary evidence supporting a correlation with developmental dyslexia (PMID: 26400686).

The CEP78 gene is associated with autosomal recessive cone-rod dystrophy (CRD) with sensorineural deafness (MedGen UID: 934624).

The CEP83 gene is associated with autosomal recessive nephronophthisis (NPHP) (MedGen UID: 786419).

The CEP89 gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined oxidative phosphorylation deficiency (PMID: 24038936) and polycystic kidney disease (PMID: 29527510).

The CERKL gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 333996) and cone-rod dystrophy (CRD) (PMID: 23591405, 20554613, 26103963).

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 CERS3 gene is associated with autosomal recessive nonsyndromic congenital ichthyosis (MedGen UID: 767263)

The CFAP298 gene (formerly known as C21orf59) is associated with autosomal recessive primary ciliary dyskinesia (MedGen UID: 816014).

The CFAP410 gene (formerly known as C21orf2) is associated with autosomal recessive retinal dystrophy (MedGen UID: 1381980) and axial spondylometaphyseal dysplasia (SMDAX) (MedGen UID: 356065).

The CFAP52 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive CFAP52-related heterotaxy (PMID: 25469542).

The CFAP53 gene is associated with autosomal recessive heterotaxy (MedGen UID: 766590).

The CFH gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 412743) and autosomal recessive complement factor H deficiency (MedGen UID: 96024). Additionally, the CFH gene has preliminary evidence supporting a correlation with basal laminar drusen (MedGen UID: 152676) and age-related macular degeneration (MedGen UID: 339914).

The CFI gene is associated with autosomal recessive complement factor I deficiency (PMID: 31231365) and autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414542). Additionally, the CFI gene has preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration susceptibility (MedGen UID: 615439).

The CFTR gene is associated with autosomal recessive cystic fibrosis (CF) (MedGen UID: 41393) and congenital bilateral absence of the vas deferens (CBAVD) (MedGen UID: 98021). Additionally, CFTR is associated with an increased risk for chronic pancreatitis (PMID: 17003641, 11729110).

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

The CHD4 gene is associated with autosomal dominant Sifrim-Hitz-Weiss syndrome (MedGen UID: 934655).

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

The CHD8 gene is associated with an autosomal dominant syndrome involving overgrowth, intellectual disability, and susceptibility to autism (MedGen UID: 767287).

The CHM gene is associated with X-linked choroideremia (MedGen UID: 944).

The CHMP1A gene is associated with autosomal recessive pontocerebellar hypoplasia type 8 (PCH8) (MedGen UID: 767123).

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

The CHMP4B gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343089).

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

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

The CHST3 gene is associated with autosomal recessive spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) (MedGen UID: 374477).

The CHST6 gene is associated with autosomal recessive macular corneal dystrophy (MedGen UID: 351514).

The CHSY1 gene is associated with autosomal recessive temtamy preaxial brachydactyly syndrome (TPBS) (MedGen UID: 381425).

The CHUK gene is associated with autosomal recessive cocoon syndrome (MedGen UID: 462241).

The CIB2 gene is associated with autosomal recessive non-syndromic deafness (MedGen UID: 332149). Additionally, the CIB2 gene has preliminary evidence supporting a correlation with autosomal recessive Usher syndrome, type I (USH1) (MedGen UID: 766858).

The CISD2 gene is associated with autosomal recessive Wolfram syndrome 2 (WFS2) (MedGen UID: 347604).

The CKAP2L gene is associated with autosomal recessive Filippi syndrome (MedGen UID: 163197).

The CLCN2 gene is associated with autosomal recessive leukoencephalopathy with ataxia (MedGen UID: 1638681) and autosomal dominant hyperaldosteronism (MedGen UID: 340137).

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

The CLCN5 gene is associated with X-linked Dent disease complex (MedGen UID: 336322).

The CLCN6 gene is associated with autosomal dominant CLCN6-related neurodevelopmental syndrome (PMID: 33217309). In addition, the CLCN6 gene has preliminary evidence supporting a correlation with autosomal dominant benign partial epilepsy (PMID: 25794116).

The CLCN7 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 370598), autosomal dominant osteopetrosis (MedGen UID: 465707), and autosomal dominant hypopigmentation, organomegaly, and delayed myelination and development (HOD) (MedGen UID: 1672512).

The CLDN1 gene is associated with autosomal recessive ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (MedGen UID: 334382).

The CLDN14 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 481290).

The CLIC5 gene currently has no well-established disease association; however there is preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (MedGen UID: 863487).

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 CLP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pontocerebellar hypoplasia (PMID: 28097321, 24766809).

The CLPP gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 814744).

The CLRN1 gene is associated with autosomal recessive Usher syndrome type III (USH3) (MedGen UID: 339336) and retinitis pigmentosa (RP) (MedGen UID: 481671).

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 CLUAP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 26820066) and an autosomal recessive multiple congenital malformation syndrome (PMID: 28679688).

The CNGB3 gene is associated with autosomal recessive achromatopsia (MedGen UID: 340413). Additionally, the CNGB3 gene has preliminary evidence supporting a correlation with autosomal recessive Stargardt macular degeneration (MedGen UID: 383691) and retinitis pigmentosa (PMID: 28157192).

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

The CNTNAP1 gene is associated with autosomal recessive lethal congenital contracture syndrome 7 (LCCS7) (MedGen UID: 894160) and and congenital hypomyelinating neuropathy 3 (CHN3) (MedGen UID: 1648417).

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

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

The COCH gene is associated with autosomal dominant nonsyndromic deafness (MedGen UID: 371327) and autosomal recessive nonsyndromic deafness (MedGen UID: 1648377).

COG1 is associated with autosomal recessive COG1-congenital disorder of glycosylation (CDG-IIg) (MedGen UID 409970).

COG5 is associated with autosomal recessive COG5-congenital disorder of glycosylation (CDG-IIi) (MedGen UID 462226).

The COG7 gene is associated with autosomal recessive COG7-congenital disorder of glycosylation (CDG-IIe) (MedGen UID: 419311).

The COL10A1 gene is associated with autosomal dominant metaphyseal chondrodysplasia, Schmid type (MCDS) (MedGen UID: 78550).

The COL11A1 gene is associated with autosomal dominant Stickler syndrome (MedGen UID: 347615), Marshall syndrome (MRSHS) (MedGen UID: 82694), which is considered to be a phenotypic variant of Stickler syndrome by some experts (PMID: 10486316, 17236192), and non-syndromic deafness (MedGen UID: 1676950). COL11A1 is also associated with autosomal recessive fibrochondrogenesis (MedGen UID: 82700) as well as autosomal recessive forms of Stickler and Marshall syndromes (PMID: 22499343, 23922384).

The COL11A2 gene is associated with a spectrum of related autosomal recessive conditions including non-syndromic hearing loss (MedGen UID: 400602), otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 140925), and fibrochondrogenesis (MedGen UID: 482758). Additionally the COL11A2 gene has preliminary evidence supporting a correlation with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293), Weissenbacher-Zweymüller syndrome (MedGen UID: 341234) and non-syndromic hearing loss (MedGen UID: 400917).

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 COL17A1 gene is associated with autosomal recessive junctional epidermolysis bullosa (JEB) (MedGen UID: 82798), and autosomal dominant amelogenesis imperfecta (PMID: PMID 8669466, 17344927) and epithelial recurrent erosion dystrophy (ERED) (MedGen UID: 342263).

The COL18A1 gene is associated with autosomal recessive Knobloch syndrome (MedGen UID: 1642123).

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

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

The COL27A1 gene is associated with autosomal recessive Steel syndrome (MedGen UID: 767508).

The COL2A1 gene is associated with a spectrum of autosomal dominant related conditions including achondrogenesis type II (MedGen UID: 66315), avascular necrosis of the femoral head (MedGen UID: 1639295), Legg-Calve-Perthes disease (MedGen UID: 6035), multiple forms of skeletal dysplasia (MedGen UID: 324580, 75559, 331974, 387979, 163223, 147134, 412530, 905084) and Stickler syndrome, type I (MedGen UID: 810955); and autosomal recessive spondyloepiphyseal dysplasia congenita (PMID: 25060605, 26358419, 26626311). Additionally, the COL2A1 gene has preliminary evidence supporting a correlation with other forms of autosomal dominant skeletal dysplasia (MedGen UID: 377049, 140925; PMID: 12205109).

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

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

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

The COL4A3 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, 1648326).

The COL4A4 gene is associated with autosomal recessive and autosomal dominant Alport syndrome (MedGen UID: 1648334, PMID: 26809805).

The COL4A5 gene is associated with X-linked Alport syndrome (MedGen UID: 1648433).

The COL4A6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked deafness (PMID: 23714752).

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

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

The COL7A1 gene is associated with autosomal dominant dystrophic epidermolysis bullosa (DDEB) (MedGen UID: 37179) and autosomal recessive dystrophic epidermolysis bullosa (RDEB) (MedGen UID: 36311).

The COL9A1 gene is associated with autosomal recessive Stickler syndrome, type IV (MedGen UID: 481571). Additionally, the COL9A1 gene has preliminary evidence supporting a correlation with dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 436517).

The COL9A2 gene is associated with autosomal recessive Stickler syndrome (MedGen UID: 481972) and autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 333092). Additionally, the COL9A2 gene has preliminary evidence supporting a correlation with susceptibility to intervertebral disc disease (PMID: 10411504).

The COL9A3 gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 322091), and autosomal recessive Stickler syndrome (PMID: 24273071). Additionally, the COL9A3 gene has preliminary evidence supporting a correlation with intervertebral disc disorder (IDD) (MedGen UID: 57852), pseudoachondroplasia (PMID: 11968079, 21922596), and autosomal dominant deafness (PMID: 15917166).

The COLEC11 gene is associated with autosomal recessive 3MC (Mingarelli, Malpuech, Michels and Carnevale) syndrome (MedGen UID: 167100).

The COMP gene is associated with autosomal dominant multiple epiphyseal dysplasia (MED) (MedGen UID: 325376) and pseudoachondroplasia (PSACH) (MedGen UID: 98378).

The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (MedGen: 452265).

The COQ2 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 764868).

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

The COQ6 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 766263).

The COQ7 gene is associated with autosomal recessive primary coenzyme Q10 deficiency (MedGen UID: 852232).

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

The COQ8B gene is associated with autosomal recessive nephrotic syndrome (MedGen UID: 816295).

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

The COX10 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 75662).

The COX14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mitochondrial complex IV deficiency (PMID: 22243966).

The COX15 gene is associated with autosomal recessive complex IV deficiency (MedGen UID: 346817).

The COX20 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

The COX6B1 gene is associated with autosomal recessive mitochondrial complex IV deficiency (MedGen UID: 75662).

The COX7B gene is associated with X-linked dominant linear skin defects with multiple congenital anomalies (LSDMCA) (MedGen UID: 763835).

The COX8A gene has no well-established disease association; however, there is preliminary evidence supporting a correlation with mitochondrial complex IV deficiency (MedGen UID: 75662).

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

The CPA1 gene is associated with autosomal dominant hereditary pancreatitis (PMID: 28258133, 23955596).

The CPA6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant familial temporal lobe epilepsy 5 (PMID: 21922598, 25875328, 26648591, 23105115) and autosomal recessive familial febrile seizures 11 (PMID: 21922598, 23105115).

The CPLANE1 gene (formerly known as C5orf42) is associated with autosomal recessive Joubert syndrome (MedGen UID: 766178) and orofaciodigital syndrome, type VI (OFD6) (MedGen UID: 411200).

The CPLX1 gene is associated with autosomal recessive early infantile epileptic encephalopathy (MedGen UID: 1646846).

The CPS1 gene is associated with autosomal recessive carbamoyl phosphate synthetase I (CPS1) deficiency (MedGen UID: 199727).

The CRADD gene is associated with autosomal recessive “thin” lissencephaly (TLIS) and intellectual disability (MedGen UID: 482674).

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

The CRB1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA)(MedGen UID: 462552), retinitis pigmentosa (RP)(MedGen UID: 374019), cone-rod dystrophy (CRD)(PMID: 26957898, 23767994), and macular dystrophy (PMID: 24811962, 29391521).

The CRB2 gene is associated with autosomal recessive focal segmental glomerulosclerosis (MedGen UID: 863992).

The CREB3L1 gene is associated with autosomal recessive osteogenesis imperfecta (OI) (MedGen UID: 864047). Additionally, the CREB3L1 gene has preliminary evidence supporting a correlation with autosomal dominant OI (PMID: 28817112).

The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.

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

The CRKL gene currently has no well-established disease association; however, this gene occurs within the region associated with 22q11.2 deletion and duplication syndromes (PMID: 28121514, 27629806, 30628148, 30614210) and there is preliminary evidence supporting a correlation with CAKUT (PMID: 28121514).

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

The CRX gene is associated with autosomal dominant Leber congenital amaurosis (LCA) (MedGen UID: 462542) and autosomal recessive Leber congenital amaurosis (LCA) (PMID: 24265693, 30557390). Additionally, the CRX gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 483485).

The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID:347693).

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 CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817). Additionally, the CRYBA1 gene has preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26622071, 25148791).

The CRYBA4 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351240). Additionally, the CRYBA4 gene has preliminary evidence supporting a correlation with autosomal recessive cataracts (PMID: 28418495) and autosomal dominant microphthalmia (PMID: 16960806).

The CRYBB1 gene is associated with autosomal dominant congenital cataracts (PMID: 18432316) and autosomal recessive congenital cataracts (MedGen UID: 854781).

The CRYBB2 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 321901).

The CRYBB3 gene is associated with autosomal dominant congenital cataracts (PMID: 23508780) and autosomal recessive congenital cataracts (MedGen UID: 341862).

The CRYGB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (MedGen UID: 815130).

The CRYGC gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343810).

The CRYGD gene is associated with autosomal dominant congenital cataracts (MedGen UID: 761925).

The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 811740).

The CRYM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant deafness (PMID: 12471561, 16740909).

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 CSF2RA gene is associated with X-linked primary pulmonary alveolar proteinosis (PAP) (MedGen ID: 393858). Of note, CSF2RA is located in the pseudoautosomal region of the X chromosome; therefore PAP-related CSF2RA variants are inherited in an autosomal recessive fashion in both males and females (PMID: 20622029, 25425184).

The CSF2RB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pulmonary alveolar proteinosis (PAP) (MedGen UID: 482204).

The CSGALNACT1 gene is associated with an autosomal recessive skeletal dysplasia (PMID: 27599773, 31325655).

The CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).

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

The CTBP1 gene is associated with autosomal dominant hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) (MedGen UID: 1647427).

The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).

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

The CTNNA1 gene is associated with autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348). Additionally, CTNNA1 has preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse gastric cancer; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 23208944, 26182300, 32051609). RW: LOF variants are currently classified as VUS. For NMD+ variants (truncations and canonical +/- 1/2 splice site variants): 1) delete auto-placed SYNTHESIS and replace with the following text; 2) change the RECOMMENDATION and Next Steps to PRO_REC offering VUS resolution. For ALL OTHER variants, KEEP auto-placed synthesis and recommendation. LOF SYNTHESIS: The clinical significance of the identified variant(s) is uncertain. While loss-of-function (LOF) variants in CTNNA1 have a preliminary association with diffuse gastric cancer, this result should be considered in the context of personal and family history of diffuse gastric cancer and may warrant additional surveillance (PMID: 32758476). To date, LOF variants in CTNNA1 have not been associated with butterfly-shaped pigmentary macular dystrophy.@@

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

The CTNS gene is associated with autosomal recessive cystinosis, including nephropathic, intermediate and ocular non-nephropathic types (MedGen UIDs: 1207, 347449, 75701).

The CTRC gene is associated with an increased risk for chronic pancreatitis (MedGen UID: 116056).

The CTSA gene is associated with autosomal recessive galactosialidosis (MedGen UID: 82779).

The CTSB gene is associated with autosomal dominant keratolytic winter erythema (MedGen UID: 98359).

The CTSC gene is associated with autosomal recessive Papillon-Lefevre syndrome (MedGen UID: 45306), Haim-Munk syndrome (MedGen UID: 344539), and aggressive periodontitis (MedGen UID: 10661).

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

The CTSK gene is associated with autosomal recessive pycnodysostosis (MedGen UID: 116061).

The CTU2 gene is associated with autosomal recessive DREAM-PL syndrome (PMID: 31301155).

The CUBN gene is associated with autosomal recessive megaloblastic anemia 1 (MGA1, also known as Imerslund-Gräsbeck syndrome) (MedGen UID: 224934).

The CUL4B gene is associated with X-linked recessive Cabezas type intellectual disability syndrome (MedGen UID: 337334).

The CUL7 gene is associated with autosomal recessive 3-M syndrome (MedGen UID: 336440).

The CWC27 gene is associated with autosomal recessive retinitis pigmentosa with or without skeletal anomalies (RPSKA) (MedGen UID: 381579).

The CXCR4 gene is associated with autosomal dominant warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (WHIMS) (MedGen UID: 96875).

The CYB5A gene is associated with autosomal recessive methemoglobinemia and ambiguous genitalia (MedGen UID: 925090).

The CYFIP2 gene is associated with autosomal dominant developmental and epileptic encephalopathy, also known as early infantile epileptic encephalopathy (MedGen UID: 1634676).

The CYP11A1 gene is associated with autosomal recessive congenital adrenal insufficiency (MedGen UID: 1643960).

The CYP11B1 gene is associated with autosomal recessive congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (MedGen UID: 202010) and autosomal dominant familial hyperaldosteronism type I (FH-I) (MedGen UID: 224694).

The CYP17A1 gene is associated with autosomal recessive congenital adrenal hyperplasia (CAH) (MedGen UID: 82782) and isolated 17, 20-lyase deficiency (MedGen UID: 925090).

The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A) (MedGen UID: 383912), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 331409). Additionally, the CYP1B1 gene has preliminary evidence supporting a correlation with autosomal recessive Peters anomaly (PMID: 11403040, 24281366).

The CYP26B1 gene is associated with autosomal recessive radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) (MedGen UID: 482359).

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 CYP4F22 gene is associated with autosomal recessive congenital ichthyosis (ARCI) (MedGen: 347628).

The CYP51A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 25148791, 22935719).

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

The D2HGDH gene is associated with autosomal recessive D-2-hydroxyglutaric aciduria (MedGen UID: 463405).

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

The DARS gene is associated with autosomal recessive leukodystrophy: hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) (MedGen UID: 815338).

The DARS2 gene is associated with autosomal recessive leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (MedGen UID: 370845).

The DBH gene is associated with autosomal recessive dopamine beta-hydroxylase deficiency (MedGen UID: 90992).

The DBT gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

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

The DCDC2 gene is associated with autosomal recessive nephronophthisis 19 (NPHP19) (MedGen UID: 863979) and neonatal sclerosing cholangitis (NSC) (MedGen: 1393230). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive deafness (PMID: 25601850).

The DCHS1 gene is associated with autosomal dominant mitral valve prolapse (MedGen UID: 335856) and autosomal recessive Van Maldergem syndrome (MedGen UID: 1644627).

The DCX gene is associated with X-linked lissencephaly and subcortical band heterotopia (SBH) (MedGen UID: 1644310).

The DDB2 gene is associated with autosomal recessive xeroderma pigmentosum (MedGen UID: 341219).

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

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

The DDOST gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive DDOST-congenital disorder of glycosylation (CDG-Ir) (PMID: 22305527).

The DDR2 gene is associated with autosomal recessive spondylometaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) (MedGen UID: 338595).

The DDRGK1 gene is associated with autosomal recessive spondyloepimetaphyseal dysplasia (MedGen UID: 400703).

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