Invitae is a New York state approved clinical laboratory. The tests and genes on this page are approved or under conditional approval by New York State to be performed at Invitae and do not require a New York exemption form.
The 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) and generalized arterial calcification of infancy (GACI) (MedGen UID: 477791).
The ABHD12 gene is associated with autosomal recessive polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) (MedGen UID: 436373).
The ACBD5 gene is associated with an autosomal recessive syndrome involving cone-rod dystrophy and white matter disease (PMID: 23105016, 27799409).
The ACO2 gene is associated with autosomal dominant optic atrophy (PMID: 34056600) and 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: 34056600) and epilepsy (PMID: 26795593).
The ADAM9 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 244692).
The ADAMTS18 gene is associated with autosomal recessive microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) (MedGen UID: 815897).
The ADAMTSL4 gene is associated with autosomal recessive isolated ectopia lentis (MedGen UID: 762100).
The ADGRA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 23105016, 24938718).
The ADGRV1 gene (also known as GPR98) is associated with autosomal recessive Usher syndrome type 2C (MedGen UID: 419359), retinitis pigmentosa (PMID: 30718709, 31047384) and nonsyndromic deafness (PMID: 32467589, 26226137, 31379920). Additionally, the ADGRV1 gene has preliminary evidence supporting a correlation with autosomal dominant epilepsy (PMID: 29266188).
The ADIPOR1 gene is associated with autosomal dominant retinitis pigmentosa (PMID: 27655171). Additionally, the ADIPOR1 gene has preliminary evidence supporting a correlation with autosomal recessive syndromic retinitis pigmentosa (PMID: 26662040).
The AGBL5 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934726).
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 AHI1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 798322) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28442542, 29186038).
The AHR gene is associated with autosomal recessive inherited retinal dystrophy with or without foveal hypoplasia (MedGen UID: 941270).
The AIPL1 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346808), cone-rod dystrophy (MedGen UID: 416625), and retinitis pigmentosa (PMID: 33067476).
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 ALMS1 gene is associated with autosomal recessive Alström syndrome (MedGen UID: 78675).
The ALX1 gene is associated with autosomal recessive frontonasal dysplasia (MedGen UID: 462056).
The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 2 (MedGen UID: 374912).
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 ARHGEF18 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 1378790).
The ARL13B gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 436772).
The ARL2BP is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 815833).
The ARL3 gene is associated with with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1648404), autosomal recessive RP (PMID: 31743939, 33748123), and autosomal recessive Joubert syndrome (MedGen UID: 1648453).
The ARL6 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and non-syndromic retinitis pigmentosa (RP) (MedGen UID: 462158).
The ARMC9 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 945537).
The ARSG gene is associated with autosomal recessive Usher syndrome (MedGen UID: 1648315).
The ASB10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant primary open angle glaucoma (POAG) (PMID: 22156576).
The ASPH gene is associated with autosomal recessive Traboulsi syndrome, also known as facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) (MedGen UID: 330396). Additionally, the ASPH gene has preliminary evidence supporting a correlation with autosomal dominant malignant hyperthermia and/or exertional heat illness (PMID: 35697689).
The ASRGL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinal degeneration (PMID: 27106100).
The ATF6 gene is associated with autosomal recessive achromatopsia (ACHM) (MedGen UID: 904646).
The ATOH7 gene is associated with autosomal recessive persistent hyperplastic primary vitreous (PHPVAR) (MedGen UID: 370100).
The B9D1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 934673).
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). Additionally, the BBS12 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 31047384).
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) and non-syndromic retinitis pigmentosa (PMID: 22219648, 26355662).
The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141) and nonsyndromic retinitis pigmentosa (PMID: 28041643, 24154662).
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 BCOR gene is associated with spectrum including X-linked dominant oculofaciocardiodental (OFCD) syndrome (MedGen UID: 337547) and retinal dystrophy (PMID: 36070393). In addition, the BCOR gene has preliminary evidence supporting a correlation with an X-linked recessive severe microphthalmia syndrome (PubMed: 26694549).
The BEST1 gene is associated with autosomal dominant vitreoretinochoroidopathy (ADVIRC) (MedGen UID: 854768), atypical vitelliform macular dystrophy (VMD1), also known as Best disease (MedGen UID: 1636950), and retinitis pigmentosa (MedGen UID: 442563). Additionally, the BEST1 gene is associated with autosomal recessive bestrophinopathy (ARB) (MedGen ID: 854806).
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 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 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) tooth agenesis (PMID: 31128441), and Stickler syndrome (PMID: 30568244).
The BMP7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant conditions causing multiple congenital anomalies (PMID: 20506283, 30963139). Other BMP7-related conditions have been reported (PMID: 24429398).
The LRMDA gene (formerly known as C10orf11) is associated with autosomal recessive oculocutaneous albinism, type 7 (MedGen UID: 815116).
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 C1QTNF5 gene is associated with autosomal dominant late-onset retinal degeneration (LORD) (MedGen UID: 344198).
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 CA4 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 322153; PMID: 15090652).
The CABP4 gene is associated with autosomal recessive congenital non-progressive cone-rod synaptic disorder (CRSD) (MedGen UID: 874422).
The CACNA1F gene is associated with X-linked recessive Aland Island eye disease (AIED) (MedGen UID: 120643), cone-rod dystrophy (CRD) (MedGen UID: 336932) and congenital stationary night blindness, type 2A (CSNB2A) (MedGen UID: 376299).
The CACNA2D4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinal cone dystrophy (RCD) (PMID: 28726569, 26560832, 17033974).
The CAPN5 gene is associated with autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) (MedGen UID: 349808). Additionally, the CAPN5 gene has preliminary evidence supporting a correlation with autosomal dominant high myopia (PMID: 26747767, 29453956).
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 CCT2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (PMID: 27645772, 29450543).
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 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 CDHR1 gene is associated with autosomal recessive cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) (MedGen UID: 462262).
The CDON gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 481845) and autosomal recessive ocular coloboma (PMID: 32729136).
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 (MedGen UID: 1675017). Additionally, the CEP250 gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic retinal dystrophy (PMID: 30998843) and with autosomal recessive azoospermia (PMID: 32719396).
The CEP290 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 346672), Joubert syndrome (MedGen UID: 347545), and Bardet-Biedl syndrome (MedGen UID: 393033).
The CEP41 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482527).
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 CERKL gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 333996) and cone-rod dystrophy (CRD) (PMID: 23591405, 20554613, 26103963).
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 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 CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).
The CHM gene is associated with X-linked choroideremia (MedGen UID: 944).
The CHMP4B gene is associated with autosomal dominant congenital cataracts (MedGen UID: 343089).
The CHRDL1 gene is associated with X-linked recessive megalocornea (MedGen UID: 138008).
The CHST6 gene is associated with autosomal recessive macular corneal dystrophy (MedGen UID: 351514).
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 CLCC1 gene is associated with autosomal recessive retinitis pigmentosa (MedGen UID: 322781).
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). Additionally, the CLN5 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 33507209).
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 CLRN1 gene is associated with autosomal recessive Usher syndrome type III (USH3) (MedGen UID: 339336) and retinitis pigmentosa (RP) (MedGen UID: 481671).
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 CNGA1 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462409).
The CNGA3 gene is associated with autosomal recessive achromatopsia (MedGen UID: 387867) and cone-rod dystrophy (PMID: 24903488).
The CNGB1 gene is associated with autosomal recessive retinitis pigmentosa (RP) with or without olfactory dysfunction (MedGen UID 462416).
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 CNNM4 gene is associated with autosomal recessive Jalili syndrome (MedGen UID: 501210).
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 nonsyndromic deafness (MedGen UID: 400602), otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 1617409), and fibrochondrogenesis (MedGen UID: 479768). COL11A2 is also associated with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293 and 120521), OSMED (also known as Weissenbacher-Zweymüller syndrome; MedGen UID: 341234) and nonsyndromic deafness (MedGen UID: 400917).
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 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 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). Additionally, the COL4A1 gene has preliminary evidence supporting a correlation with autosomal recessive brain small vessel disease with ocular anomalies (PMID: 32042920, 33491999).
The COL4A2 gene is associated with autosomal dominant porencephaly 2, also known as brain small vessel disease 2 (BSVD2) (MedGen UID: 482600). Additionally, the COL4A2 gene has preliminary evidence supporting a correlation with autosomal recessive leukoencephalopathy (PMID: 33912663, 36603335).
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 is associated with X-linked recessive non-syndromic deafness (MedGen UID: 813067). Additionally, the COL4A6 gene has preliminary evidence supporting a correlation with Alport syndrome-diffuse leiomyomatosis (PMID: 28275241).
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 COL8A2 gene is associated with autosomal dominant corneal dystrophy (MedGen UID: 377757, 338172).
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), autosomal dominant vitreoretinal degeneration (PMID: 33633367), 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 CPAMD8 gene is associated with autosomal recessive anterior segment dysgenesis (MedGen UID: 934589).
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 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), macular dystrophy (PMID: 24811962, 29391521), and foveal retinoschisis (PMID: 27258436).
The CRX gene is associated with a spectrum of autosomal dominant inherited retinal conditions including macular dystrophy (PMID: 35934205), Stargardt disease (PMID: 31626798, 30718709), cone-rod dystrophy (MedGen UID: 483485), and Leber congenital amaurosis (MedGen UID: 462542), as well as autosomal recessive Leber congenital amaurosis (PMID: 24265693, 30557390, 29568065).
The CRYAA gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 347693). Additionally, the CRYAA gene has preliminary evidence supporting a correlation with autosomal dominant anterior segment dysgenesis (PMID: 32791987).
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 CSPP1 gene is associated with with autosomal recessive Joubert syndrome (MedGen UID: 934673) and short-rib thoracic dystrophy (SRTD) (PMID: 24360808).
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 CTNNA1-related diffuse gastric cancer (PMID: 34425242) and autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348). Additionally, CTNNA1 gene has preliminary evidence supporting correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 33497368) and syndromic craniosynostosis (PMID: 31292255).
The CTSD gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 10 (CLN10) (MedGen UID: 350481).
The CWC27 gene is associated with autosomal recessive retinitis pigmentosa with or without skeletal anomalies (RPSKA) (MedGen UID: 381579).
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 CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).
The CYP4V2 gene is associated with autosomal recessive Bietti crystalline dystrophy (BCD) (MedGen UID: 347895) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 400996)
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 DCDC1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aniridia (PMID: 21364908, 21321669, 19793656).
The DCN gene is associated with autosomal dominant congenital stromal corneal dystrophy (CSCD) (MedGen UID: 400601).
The DHDDS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462577) and autosomal dominant developmental and epileptic encephalopathy syndrome (MedGen UID: 1641343). In addition, there is preliminary evidence supporting a correlation with DHDDS-congenital disorder of glycosylation (CDG-Ibb) (PMID: 27343064).
The DHX32 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive inherited retinal disease (PMID: 29320387).
The DHX38 gene is associated with autosomal recessive early-onset retinitis pigmentosa with or without macular coloboma (MedGen UID: 1648352).
The DNAJC17 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa with hypogammaglobulinaemia (PMID: 26355662).
The DRAM2 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 850969).
The DSCAML1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (PMID: 25363768, 28191890) and congenital heart defects with or without neurodevelopmental disorder (PMID: 28991257). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive retinal disease (PMID: 29320387) and motor neuron disease, scoliosis, and chest deformity (PMID: 26539891).
The DTHD1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with glaucoma and Leber congenital amaurosis (PMID: 24911043, 23105016).
The DTNBP1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 481386).
The EFEMP1 gene is associated with autosomal dominant Doyne honeycomb retinal dystrophy (DHRD) (MedGen UID: 321900) and primary open-angle glaucoma (PMID: 32476818, 34923728).
The ELOVL4 gene is associated with autosomal dominant Stargardt-like macular degeneration (MedGen UID: 333146), autosomal dominant spinocerebellar ataxia 34 (also known as erythrokeratodermia with ataxia) (MedGen UID: 338703), and autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (ISQID) (MedGen UID: 482486).
The ELP4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant aniridia and predisposition to neurodevelopmental anomalies ranging from autism spectrum to language impairment and epilepsy (PMID: 17679951, 24290376, 26010655).
The EMC1 gene is associated with autosomal dominant and autosomal recessive cerebellar atrophy, visual impairment, and psychomotor retardation (MedGen UID: 905041). Additionally, the EMC1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 23105016).
The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).
The EPHA2 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 396229).
The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).
The ERCC5 gene is associated with autosomal recessive xeroderma pigmentosum (XP) (MedGen UID: 21943) and Cockayne syndrome (MedGen UID: 40363).
The ERCC6 gene is associated with autosomal recessive Cockayne syndrome B (MedGen UID: 155487) and cerebrooculofacioskeletal syndrome (MedGen UID: 66320). Additionally, the ERCC6 gene has preliminary evidence supporting a correlation with autosomal dominant primary ovarian insufficiency (MedGen UID: 38820).
The ERCC8 gene is associated with autosomal recessive Cockayne syndrome type A (MedGen UID: 155488) and UV-sensitive syndrome (MedGen UID: 766212).
The EXO5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with primary congenital glaucoma (PMID: 22219654).
The EXOSC2 gene is associated with autosomal recessive short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) (MedGen UID: 1615526).
The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (MedGen UID: 351307, 82693).
The EYS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 350427).
The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).
The FAM161A gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 244030).
The FAT1 gene is associated with autosomal recessive colobomatous microphthalmia, ptosis, and cutaneous syndactyly with or without glomerulotubular nephropathy (PMID: 30862798). Additionally, the FAT1 gene has preliminary evidence supporting a correlation with spinocerebellar ataxia (PMID: 29053796) and congenital anomalies of the kidneys and urinary tract (CAKUT) (PMID: 26489027).
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 FBN3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 29156830) and arthrogryposis (PMID: 26752647).
The FLVCR1 gene is associated with autosomal recessive posterior column ataxia with retinitis pigmentosa (MedGen UID: 324636).
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 FOXE3 gene is associated with autosomal recessive congenital primary aphakia [CPA] (MedGen UID: 339935) and autosomal dominant anterior segment mesenchymal dysgenesis [ASMD] (MedGen UID: 350766) and thoracic aortic aneurysm and/or dissection (TAAD) (MedGen UID: 1377970).
The FOXL2 gene is associated with autosomal dominant blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), types I and II (Medgen UID: 66312). Additionally, the FOXL2 gene has preliminary evidence supporting a correlation with autosomal dominant premature ovarian failure (MedGen UID: 373230).
The FRAS1 gene is associated with autosomal recessive Fraser syndrome (Medgen UID: 82692).
The FREM1 gene is associated with autosomal recessive Manitoba oculo-tricho-anal (MOTA) syndrome (MedGen UID: 383680) and bifid nose with or without anorectal and renal anomalies (BNAR) syndrome (MedGen UID: 413305). Additionally, the FREM1 gene has preliminary evidence supporting a correlation with autosomal dominant trigonocephaly (PMID: 21931569) and autosomal recessive hydrocephalus and short-limbed dwarfism (PMID: 28622873).
The FREM2 gene is associated with autosomal recessive Fraser syndrome (MedGenUID: 1624349).
The FRMD7 gene is associated with X-linked infantile nystagmus (MedGen UID: 333352).
The FSCN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinal dystrophies (PMID: 16280978, 17251446, 33946315).
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 FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)
The FZD4 gene is associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) (MedGen UID: 343561). Additionally, the FZD4 gene has preliminary evidence supporting a correlation with susceptibility to retinopathy of prematurity (ROP) (PMID: 20141357, 23441120).
The FZD5 gene is associated with autosomal dominant non-syndromic coloboma (PMID: 26908622, 32737437).
The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).
The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772). The Duarte variant, c.-119_-116del, is the most common GALT variant (PMID: 19904210) and, if present, is reported in the Complete Results table. Familial variant testing is available upon request.
The GCNT2 gene is associated with autosomal recessive cataracts with adult i phenotype (MedGen UID: 811703).
The GDF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with a skeletal disorder with ocular involvement (PMID: 19864492, 24859618).
The GDF6 gene is associated with autosomal dominant multiple synostoses syndrome (MedGen UID: 90977). Additionally, the GDF6 gene has preliminary evidence supporting a correlation with autosomal dominant Klippel-Feil syndrome (KFS) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 811616), autosomal dominant isolated microphthalmia (MCOP) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma (MCOPCB) (MedGen UID: 462318).
The GFER gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 416525).
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 GJA3 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 356152).
The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).
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 GNAT1 gene is associated with autosomal dominant congenital stationary night blindness (MedGen UID: 355313) and autosomal recessive retinitis pigmentosa (PMID: 31736247, 27977773, 26472407). Additionally, the GNAT1 gene has preliminary evidence supporting a correlation with high myopia (PMID: 29453956).
The GNAT2 gene is associated with autosomal recessive achromatopsia (MedGen UID: 330669).
The GNB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with night-blindness (PMID: 27063057) and kidney dysplasia (PMID: 26489027).
The GNPTG gene is associated with autosomal recessive mucolipidosis type III gamma (ML III gamma) (MedGen UID: 340743).
The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).
The GPR143 gene is associated with X-linked congenital nystagmus (MedGen UID: 463102) and ocular albinism (MedGen UID: 90991).
The GPR179 gene is associated with autosomal recessive congenital stationary night blindness (MedGen UID: 482845).
The GPR45 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cone-rod dystrophy (PMID: 29320387).
The GRHL2 gene is associated with autosomal recessive ectodermal dysplasia short stature syndrome (ECTDS) (MedGen UID: 863424), and autosomal dominant deafness (MedGen UID: 324846) and posterior polymorphous corneal dystrophy (PPCD) (PMID: 29499165).
The GRIP1 gene is associated with autosomal recessive Fraser syndrome (MedGen UID: 1621907).
The GRM6 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 342484).
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 GUCA1A gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 356104).
The GUCA1B gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 462540).
The GUCY2D gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 419026), autosomal recessive congenital stationary night blindness (MedGen UID: 1684817) and autosomal dominant cone-rod dystrophy (MedGen UID: 400963).
The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 898344) and autosomal recessive Usher syndrome type IIIB (MedGen UID: 482696). Additionally, the HARS gene has preliminary evidence supporting a correlation multi-system ataxic syndrome (PMID: 32333447).
The HCCS gene is associated with X-linked dominant microphthalmia with linear skin defects (MLS) syndrome (MedGen ID: 163210).
The HESX1 gene is associated with autosomal recessive and autosomal dominant septo-optic dysplasia (SOD) (MedGen UID: 90926). Additionally, the HESX1 gene has preliminary evidence supporting a correlation with autosomal dominant idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) (PMID: 23465708).
The HGSNAT gene is associated with autosomal recessive mucopolysaccharidosis type IIIC (MPS IIIC or Sanfilippo C) (MedGen UID: 39477) and retinitis pigmentosa (RP) (MedGen UID: 907690).
The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693), autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200), and an autosomal dominant neurodevelopmental syndrome (MedGen UID: 1684774). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).
The HMCN1 gene is associated with autosomal dominant retinitis pigmentosa (PMID: 28512305). Additionally, the HMCN1 gene has preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration (MedGen UID: 400475).
The HMGB3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with microphthalmia (PMID: 24993872).
The HMX1 gene is associated with autosomal recessive oculoauricular syndrome (MedGen UID: 393758).
The HPS1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 1 (HPS1) (MedGen UID: 419514).
The HPS3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 3 (HPS3) (MedGen UID: 854708).
The HPS4 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 483344).
The HPS5 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854711).
The HPS6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854714).
The HSF4 gene is associated with autosomal dominant and autosomal recessive cataracts (MedGen UID: 854893).
The IDH3A gene is associated with autosomal recessive inherited retinal disease (IRD) with or without macular pseudocoloboma (PMID: 30058936, 31012789, 28412069). Additionally, the IDH3A gene has preliminary evidence supporting a correlation with autosomal recessive early infantile epileptic encephalopathy (PMID: 28058510).
The IDH3B gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 382614). Additionally, the IDH3B gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 28991257), and autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 28720665).
The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455), and retinitis pigmentosa (MedGen UID: 1619674).
The IFT172 gene is associated with autosomal recessive Bardet-Biedl syndrome (PMID: 26763875), short-rib thoracic dysplasia with or without polydactyly (MedGen UID: 816505), and non-syndromic retinitis pigmentosa (PMID: 25168386). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 24140113).
The IFT27 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 855173).
The IFT43 gene is associated with autosomal recessive cranioectodermal dysplasia (MedGen UID: 481437). Additionally, the IFT43 gene has preliminary evidence supporting a correlation with autosomal recessive retinal degeneration (PMID: 28973684).
The IFT74 gene is associated with autosomal recessive Joubert syndrome (PMID: 33531668) and autosomal recessive asphyxiating thoracic dystrophy (ATD) (PMID: 33875766, 36865301). Additionally, the IFT74 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 934674), autosomal dominant amyotrophic lateral sclerosis (ALS) (PMID: 17166276), and autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 33770252).
The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).
The IFT81 gene is associated with a spectrum of autosomal recessive ciliopathies including short-rib thoracic dystrophy (SRTD) (MedGen UID: 1635837) and nephronophthisis with polydactyly (PMID: 26275418). Additionally, the IFT81 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 28460050).
The IFT88 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinal degeneration (PMID: 29978320) and isolated cleft lip and palate (PMID: 28069795).
The IMPDH1 gene is associated with autosomal dominant and recessive retinitis pigmentosa (RP) (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis (LCA) (MedGen UID: 326698).
The IMPG1 gene is associated with autosomal dominant macular dystrophy (MedGen UID: 863779; PMID: 23993198), autosomal recessive macular dystrophy (PMID: 23993198), and autosomal dominant retinitis pigmentosa (PMID: 32817297). Additionally, the IMPG1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 32817297).
The IMPG2 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462169). Additionally, the IMPG2 gene has preliminary evidence supporting a correlation with autosomal dominant vitelliform macular dystrophy (VMD) (PMID: 31264916, 28644393, 30300315).
The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502) and retinitis pigmentosa (PMID: 29555955, 28559085, 29186038).
The INVS gene is associated with autosomal recessive infantile nephronophthisis (MedGen UID: 355574).
The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis (LCA), which, when present together, are referred to as Senior-Loken syndrome (MedGen UID: 332226).
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 ITPR1 gene is associated with autosomal dominant spinocerebellar ataxia type 15 (SCA15) and spinocerebellar ataxia type 29 (SCA29) (MedGen UID: 338301, 350085). The ITPR1 gene is also associated with autosomal dominant and recessive Gillespie syndrome (GLSP) (MedGen UID: 96563).
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434), tetralogy of Fallot (MedGen UID: 21498), and Charcot-Marie-Tooth disease type 2 (CMT2) (PMID: 32065591). Additionally, the JAG1 gene has preliminary evidence supporting a correlation with autosomal dominant familial exudative vitreoretinopathy (PMID: 31273345).
The JAM3 gene is associated with autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) (MedGen UID: 462350).
The KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 481692).
The KCNV2 gene is associated with autosomal recessive retinal cone dystrophy (RCD) (MedGen UID: 332081).
The KERA gene is associated with autosomal recessive cornea plana 2 (CNA2) (MedGen UID: 346616).
The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) (MedGen UID: 901479).
The KIAA1549 gene is associated with autosomal recessive retinitis pigmentosa (RP) (PMID: 23105016, 30120214, 28512305).
The KIF11 gene is associated with autosomal dominant microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLID) (MedGen UID: 320559).
The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome (MedGen UID: 162915).
The KIZ gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 862749).
The KLHL7 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 442864), autosomal recessive PERCHING syndrome (MedGen UID: 934709) and autosomal recessive Bohring-Opitz-like syndrome (PMID: 29074562, 31953236).
The KRT12 gene is associated with autosomal dominant Meesmann corneal dystrophy (MECD) (MedGen UID: 946312).
The KRT3 gene is associated with autosomal dominant Meesmann corneal dystrophy (MECD) (MedGen UID: 618767).
The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 388031).
The LCAT gene is associated with autosomal recessive lecithin-cholesterol acyltransferase (LCAT) deficiency (MedGen UID: 1435006), Norum disease (MedGen UID: 9698), and Fish-eye disease (MedGen UID: 83354).
The LEMD2 gene is associated with autosomal dominant nuclear envelopathy with early progeroid appearance (PMID: 30905398). Additionally, the LEMD2 gene currently has preliminary evidence supporting a correlation with autosomal recessive juvenile-onset cataracts (MedGen UID: 444142; PMID: 26788539, 31061923).
The LIM2 gene is associated with autosomal recessive and autosomal dominant congenital cataracts (MedGen UID: 815334, PMID: 32202185, 33078099).
The LMX1B gene is associated with autosomal dominant nail-patella syndrome (NPS) (MedGen UID: 10257) and focal segmental glomerulosclerosis (FSGS)(PMID: 23687361, 26560070).
The LONP1 gene is associated with autosomal dominant congenital diaphragmatic hernia (PMID: 34547244) and autosomal recessive cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome (MedGen UID: 333031). Additionally, the LONP1 gene has preliminary evidence supporting a correlation with autosomal dominant mitochondrial encephalopathy (PMID: 31923470).
The LOXHD1 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 412541). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant Fuchs corneal dystrophy (FCD) (PMID: 22341973).
The LOXL3 gene is associated with autosomal recessive Stickler syndrome (PMID: 25663169). Additionally, the LOXL3 gene has preliminary evidence supporting a correlation with early-onset high myopia (PMID: 26957899).
The LRAT gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 442375), and early-onset retinitis pigmentosa (RP) (MedGen UID: 442376).
The LRIT3 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 767313).
The LRP2 gene is associated with autosomal recessive Donnai-Barrow syndrome (DBS) (MedGen UID: 347406).
The LRP5 gene is associated with autosomal dominant osteopetrosis (MedGen UID: 335932), autosomal dominant polycystic liver disease (MedGen UID: 165781), autosomal recessive osteoporosis with pseudoglioma (OPPG) (MedGen UID: 98480), and autosomal dominant and recessive exudative vitreoretinopathy (FEVR) (MedGen UID: 356171).
The LSS gene is associated with autosomal recessive syndromic intellectual disability with congenital alopecia or hypotrichosis (MedGen UID: 1648477). Additionally, the LSS gene has preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26200341, 29016354).
The LTBP2 gene is associated with autosomal recessive primary congenital glaucoma (PCG) (MedGen UID: 416524), and microspherophakia (MedGen UID: 761238). Additionally, the LTBP2 gene has preliminary evidence supporting a correlation with autosomal recessive Weill-Marchesani syndrome (WMS) type 3 (MedGen UID: 766699), autosomal recessive Marfan-like syndrome (PMID: 22539340), and autosomal recessive alveolar capillary dysplasia without misalignment of pulmonary veins (PMID: 33766794).
The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).
The LZTFL1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 811538).
The MAB21L2 gene is associated with autosomal dominant syndromic microphthalmia/coloboma and skeletal dysplasia syndrome (MedGen UID: 862977).
The MAF gene is associated with autosomal dominant Ayme-Gripp syndrome (MedGen UID: 371416).
The MAK gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 481672).
The MAPKAPK3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant macular dystrophy (PMID: 26744326).
The MERTK gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462578). Additionally, the MERTK gene has preliminary evidence supporting a correlation with autosomal dominant pheochromocytoma (PMID: 26700204).
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 MFRP gene is associated with autosomal recessive posterior microphthalmos/nanophthalmos and retinal dystrophy (PMID: 22605927, 17167404, 19753314, 18554571).
The MFSD8 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis type 7 (CLN7) (MedGen UID: 325457) and retinal dystrophy (MedGen UID: 863808). In addition, the MFSD8 gene has preliminary evidence supporting a correlation with amyotrophic lateral sclerosis (ALS) (PMID: 33226711).
The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).
The MIR184 gene is associated with autosomal dominant endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MedGen UID: 482022).
The MIR204 gene is associated with autosomal dominant familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (MedGen UID: 904740)
The MITF gene is associated with autosomal dominant Waardenburg syndrome, type 2a (MedGen UID: 349786), and autosomal recessive COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness) (MedGen UID: 934592). The c.952G>A (p.Glu318Lys) variant in MITF is associated with autosomal dominant predisposition to cutaneous malignant melanoma (MedGen UID: 463554).
The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and McKusick-Kaufman syndrome (MedGen UID: 184924).
The MKS1 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The MLPH gene is associated with autosomal recessive Griscelli syndrome, type 3 (GS3) (MedGen UID: 373124).
The MPDZ gene is associated with autosomal recessive congenital hydrocephalus (MedGen UID: 767605). Additionally, the MPDZ gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 21862650).
The MTPAP gene is associated with autosomal recessive spastic ataxia 4 (SPAX4) (MedGen UID: 462275).
The MTTP gene is associated with autosomal recessive abetalipoproteinemia (MedGen UID: 1253).
The MYH9 gene is associated with autosomal dominant MYH9-related disorders (MYH9RD) (MedGen UID: 1704278) and nonsyndromic deafness (MedGen UID: 350942).
The MYO5A gene is associated with autosomal recessive Griscelli syndrome, type 1 (GS1) (MedGen UID: 347092).
The MYO7A gene is associated with autosomal recessive Usher syndrome type 1 (MedGen UID: 292820), non-syndromic retinitis pigmentosa (PMID: 28559085, 21901789), and non-syndromic deafness (MedGen UID: 325485), as well as autosomal dominant non-syndromic deafness (MedGen UID: 331297).
The MYOC gene is associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 333974).
The NAA10 gene is associated with X-linked N-terminal acetyltransferase deficiency, also known as Ogden syndrome (MedGen UID: 477078). Additionally, the NAA10 gene has preliminary evidence supporting a correlation with X-linked Lenz microphthalmia syndrome (LMS) (MedGen UID: 162898; PMID: 24431331).
The NAGLU gene is associated with autosomal recessive mucopolysaccharidosis type IIIB (MPS IIIB) (MedGen UID: 88601). There is also preliminary evidence supporting a correlation with autosomal dominant axonal Charcot-Marie-Tooth disease type 2V (CMT2V) (PMID: 25818867).
The NBAS gene is associated with autosomal recessive infantile liver failure (MedGen UID: 815981) and autosomal recessive short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome (MedGen UID: 762020).
The NDP gene is associated with X-linked exudative vitreoretinopathy 2 (EVR2) (MedGen UID: 337030) and Norrie disease (ND) (MedGen UID: 75615). Other NDP-related retinopathies have been reported (MedGen UID: 75615).
The NEK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 24043777).
The NEUROD1 gene is associated with autosomal dominant maturity onset diabetes of the young type 6 (MODY6) (MedGen UID: 344030) and autosomal recessive permanent neonatal diabetes with neurological abnormalities (PMID: 20573748). Additionally, the NEUROD1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 25477324).
The NF2 gene is associated with autosomal dominant NF2-related schwannomatosis, previously known as neurofibromatosis type 2 (MedGen UID: 18014).
The NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).
The NLRP1 gene is associated with autosomal dominant and recessive autoinflammatory keratinization disease (Medgen UID: 815206, 1380109, 1719353).
The NMNAT1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 325277).
The NPHP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 343406). Additionally, the NPHP1 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27486776).
The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 811626).
The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).
The NR2E3 gene is associated with autosomal recessive enhanced S-cone syndrome (ESCS) (MedGen UID: 341446) and autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 410004). Additionally, the NR2E3 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 18294254, 27032803).
The NR2F1 gene is associated with autosomal dominant Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (MedGen UID: 816693).
The NRL gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 320323) and autosomal recessive clumped pigment type retinal degeneration (CPTRD) (PMID: 15591106, 11694879).
The NYX gene is associated with X-linked congenital stationary night blindness, type 1A (CSNB1A) (MedGen UID: 326921).
The OAT gene is associated with autosomal recessive gyrate atrophy of choroid and retina (GACR) (MedGen UID: 109343).
The OCA2 gene is associated with autosomal recessive oculocutaneous albinism (OCA) type 2 (MedGen UID: 82810).
The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145) and Dent disease (MedGen UID: 931198).
The OFD1 gene is associated with X-linked dominant oral-facial-digital syndrome type 1 (OFD1) (MedGen UID: 307142), X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 440688), X-linked recessive primary ciliary dyskinesia (PCD) (PMID: 16783569), and X-linked recessive retinitis pigmentosa (RP) (MedGen UID: 238456).
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 deletion 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 OPN1SW gene is associated with autosomal dominant tritanopia (MedGen UID: 57827).
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 OR2W3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 25783483).
The OTX2 gene is associated with a spectrum of autosomal dominant OTX2-related disorders, including microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558), Leber congenital amaurosis (LCA) (PMID: 29343940, 27422788, 29588463), agnathia-otocephaly complex (PMID: 27442045, 22577225), pituitary hormone deficiency (MedGen UID: 462790), and oculo-auriculo-vertebral (OAV) spectrum (PMID: 36368868).
The OVOL2 gene is associated with autosomal dominant posterior polymorphous corneal dystrophy 1 (PPCD1) (MedGen UID: 343836).
The P3H2 gene is associated with autosomal recessive myopia with cataract and vitreoretinal degeneration (MedGen UID: 481976).
The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002) and autosomal dominant focal segmental glomerulosclerosis (MedGen UID: 863362).
The PAX6 gene is associated with autosomal dominant Peters anomaly (MedGen UID: 91031), aniridia (MedGen UID: 576337), and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has preliminary evidence supporting a correlation with autosomal dominant Gillespie syndrome (PMID: 17595013), foveal hypoplasia (MedGen UID: 811934), and keratitis (MedGen UID: 332039). Deletions of PAX6 are part of a contiguous gene deletion syndrome: Wilms tumor, aniridia, genitourinary anomalies and intellectual disability (WAGR) syndrome (MedGen UID: 64512).
The PCARE gene (formerly known as C2orf71) is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462041).
The PCDH15 gene is associated with autosomal recessive Usher syndrome (MedGen UID: 356393) and nonsyndromic deafness (MedGen UID: 332110). Additionally, the PCDH15 gene has preliminary evidence supporting a correlation with digenic Usher syndrome (PMID: 24618850, 15537665).
The PCYT1A gene is associated with autosomal recessive spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) (MedGen UID: 324684). Additionally, the PCYT1A gene has preliminary evidence supporting a correlation with autosomal recessive congenital lipodystrophy and fatty liver disease (PMID: 24889630).
The PDE6A gene is associated with autosomal recessive retinitis pigmentosa (MedGen UID: 462489). Additionally, the PDE6A gene has preliminary evidence supporting a correlation with autosomal dominant periventricular nodular heterotopia (PMID: 29738522).
The PDE6B gene is associated with autosomal dominant congenital stationary night blindness (CSNB) (MedGen UID: 361814), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462457).
The PDE6C gene is associated with autosomal recessive achromatopsia (MedGen UID: 57751) and retinal cone dystrophy (MedGen UID: 416518).
The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).
The PDE6G gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462171).
The PDE6H gene is associated with autosomal recessive achromatopsia (MedGen UID: 57751).
The PDZD7 gene is associated with autosomal recessive nonsyndromic deafness (MedGen UID: 1631180). Additionally, the PDZD7 gene has preliminary evidence supporting a correlation with digenic Usher syndrome type IIC (USH2C) (PMID: 20440071; MedGen UID: 460280).
The PEX1 gene is associated with autosomal recessive Zellweger spectrum disorders (ZSD) (MedGen UID: 489910, 343498, 21958, 1647369).
The PEX10 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766861, MedGen UID: 766862).
The PEX11B gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766969), also referred to as peroxisome biogenesis disorder 14B.
The PEX12 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766843, 79470).
The PEX13 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766914, 766915).
The PEX14 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766918).
The PEX16 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766873, 766874).
The PEX19 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766916).
The PEX2 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766854, 762202).
The PEX26 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 761334, 766865).
The PEX3 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766913).
The PEX5 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 347830, MedGen UID: 129184) and rhizomelic chondrodysplasia punctata (RCDP) (PMID: 26220973).
The PEX6 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766850, 766851, 903520).
The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata (RCDP) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161).
The PHYH gene is associated with autosomal recessive Refsum disease (MedGen UID: 11161).
The PIK3R1 gene is associated with autosomal dominant SHORT syndrome (MedGen UID: 164212), autosomal dominant activated PI3K-delta syndrome (PMID: 25133428) and autosomal recessive agammaglobulinemia (PMID: 22351933).
The PIKFYVE gene is associated with autosomal dominant fleck corneal dystrophy (FCD) (MedGen UID: 287065).
The PITPNM3 gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 322083).
The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has preliminary evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271).
The PITX3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351162) and anterior segment mesenchymal dysgenesis (ASMD)(MedGen UID: 350766).
The PLA2G5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive familial benign fleck retina (PMID: 22137173).
The PLK4 gene is associated with autosomal recessive microcephaly and short stature with or without ocular anomalies (PMID: 25320347, 25344692, 27650967).
The PNPLA6 gene is associated with a spectrum of autosomal recessive neurological conditions, including hereditary spastic paraplegia 39 (SPG39) (MedGen UID: 383142), Boucher-Neuhauser syndrome (BNHS) (MedGen UID: 347798), Oliver-McFarlane syndrome (OMCS) (MedGen UID: 338532), and Lawrence-Moon syndrome (LNMS) (MedGen UID: 44078).
The POC1B gene is associated with autosomal recessive cone-rod dystrophy (MedGen UID: 863293).
The POC5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 29272404).
The POMGNT1 gene is associated with autosomal recessive muscular dystrophy-dystroglycanopathy type A3 (MDDGA3) (MedGen UID: 462869), type B3 (MDDGB3) (MedGen UID: 461762) and type C3 (MDDGC3) (MedGen UID: 461767), and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934671).
The PORCN gene is associated with X-linked focal dermal hypoplasia (MedGen UID: 42055). Additionally, the PORCN gene has preliminary evidence supporting a correlation with X-linked recessive anophthalmia and microphthalmia (MedGen UID: 468558).
The PPT1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).
The PRCD gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 351175).
The PRDM13 gene is associated with autosomal dominant North Carolina macular dystrophy (PMID: 26507665, 30710461). Additionally, there is preliminary evidence supporting an association with autosomal recessive cerebellar ataxia (PMID: 29878067) and congenital hypogonadotropic hypogonadism and cerebellar hypoplasia (PMID: 34730112).
The PRDM5 gene is associated with autosomal recessive brittle cornea syndrome (MedGen UID: 481641). Additionally, the PRDM5 gene has preliminary evidence supporting an association with autosomal recessive Axenfeld-Rieger syndrome (ARS) (PMID: 26489929).
The PROM1 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 383126), autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 393334), and autosomal recessive Stargardt disease (PMID: 25474345, 28095140). Additionally, the PROM1 gene is associated with autosomal dominant retinal macular dystrophy (MCDR) (MedGen UID: 137921) and autosomal dominant Stargardt-like disease (STGD) (MedGen UID: 355004).
The PROP1 gene is associated with autosomal recessive combined pituitary hormone deficiency (MedGen UID: 209236).
The PRPF3 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 371314).
The PRPF31 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 325055).
The PRPF4 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 863118).
The PRPF6 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 462784). Additionally, the PRPF6 gene has preliminary evidence supporting a correlation with high myopia (PMID: 29453956).
The PRPF8 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 325486), primary open angle glaucoma (PMID: 28707069), and PRPF8-related neurodevelopmental condition (PMID: 35543142).
The PRPH2 gene is associated with autosomal dominant and autosomal recessive PRPH2-related conditions including retinitis pigmentosa (RP) (MedGen UID: 334168), Leber congenital amaurosis (LCA) (MedGen UID: 137922), macular dystrophy (MD) (MedGen UID: 1636950), central areolar choroidal dystrophy (CACD) (MedGen UID: 442696), and Stargardt disease (PMID: 22863181).
The PRPS1 gene is associated with a spectrum of X-linked conditions including Charcot-Marie-Tooth disease type 5 (CMTX5) (MedGen UID: 374254), Arts syndrome (MedGen UID: 163205), phosphoribosylpyrophosphate synthetase (PRS) superactivity (MedGen UID: 370358), and congenital sensorineural deafness type 1 (DFNX1) (MedGen UID: 336749).
The PRSS56 gene is associated with autosomal recessive isolated microphthalmia-6 (MCOP6) (MedGen UID: 462107).
The PXDN gene is associated with autosomal recessive corneal opacification and other ocular anomalies (COPOA) (MedGen UID: 462967).
The RAB18 gene is associated with autosomal recessive autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 481833).
The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).
The RAB28 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 815629).
The RAB3GAP1 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 333142).
The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome (WARBM) (MedGen UID: 472601).
The RARB gene is associated with autosomal dominant pulmonary hypoplasia, diaphragmatic hernia, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome (MedGen UID: 816133). Additionally, the RARB gene has preliminary evidence supporting a correlation with autosomal recessive PDAC syndrome (PMID: 24075189).
The RAX gene is associated with autosomal recessive isolated microphthalmia (MCOP) (MedGen UID: 370863).
The RAX2 gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 322767) and autosomal recessive retinitis pigmentosa (RP) (PMID: 30377383).
The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). There is also evidence suggesting RB1 is associated with predisposition to several cancer types among retinoblastoma survivors (PMID: 14996857, 22355046).
The RBP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis (LCA) (PMID: 25445212).
The RBP3 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 811638).
The RBP4 gene is associated with autosomal dominant microphthalmia, anophthalmia, and coloboma (MAC) spectrum (MedGen UID: 909133), and autosomal recessive retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS) (MedGen UID: 767507).
The RCBTB1 gene is associated with autosomal recessive retinal dystrophy with or without extraocular anomalies (MedGen UID: 934647).
The RD3 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 347535 ).
The RDH11 gene is associated with autosomal recessive retinitis pigmentosa with syndromic features (MedGen UID: 863679). Additionally, the RDH11 gene has preliminary evidence supporting a correlation with microcephaly with intellectual disability (PMID: 29302074).
The RDH12 gene is associated with a spectrum of autosomal recessive retinal dystrophies including Leber congenital amaurosis (MedGen UID: 382544), cone-rod dystrophy, retinitis pigmentosa, and macular dystrophy (PMID: 32790509, 32014858, 30134391). The RDH12 gene is also associated with autosomal dominant retinitis pigmentosa (PMID: 18779497, 34031043).
The RDH5 gene is associated with autosomal recessive fundus albipunctatus (FA) (MedGen UID: 86317).
The RECQL4 gene is associated with autosomal recessive Rothmund-Thomson syndrome (RTS) (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602), and Baller-Gerold syndrome (BGS) (MedGen UID: 120532).
The REEP6 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934593).
The RERE gene is associated with autosomal dominant neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) (MedGen UID: 934739).
The RGR gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with inherited retinal disease (PMID: 10581022, 30347075).
The RGS6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cataracts (PMID: 29914532) and autosomal recessive syndromic cataract with intellectual disability (ID) and microcephaly (PMID: 29302074).
The RGS9 gene is associated with autosomal recessive bradyopsia (MedGen UID: 331206).
The RGS9BP gene is associated with autosomal recessive bradyopsia (MedGen UID: 331206). Additionally, the RGS9BP gene has preliminary evidence supporting a correlation with autosomal recessive cone-rod dystrophy (PMID: 26355662).
The RHO gene is associated with autosomal dominant and recessive retinitis pigmentosa (RP)(MedGen UID: 462351) and autosomal dominant congenital stationary night blindness (CSNBAD) (MedGen UID: 355852).
The RIMS1 gene is associated with autosomal dominant cone-rod dystrophy (MedGen UID: 355026).
The RLBP1 gene is associated with autosomal recessive disorders including retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), and fundus albipunctatus (FA) (MedGen UID: 893672) .
The RNLS gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with pediatric cataracts (PMID: 22935719).
The ROM1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 8595413, 9331261). Additionally, there is preliminary evidence suggesting the ROM1 gene may be a modifier of the PRPH2-associated retinitis pigmentosa phenotype (PMID: 8202715).
The RP1 gene is associated with autosomal dominant and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 67395).
The RP1L1 gene is associated with autosomal dominant occult macular dystrophy (OCMD) (MedGen UID: 462183) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 946424).
The RP2 gene is associated with X-linked retinitis pigmentosa (RP) (MedGen UID: 394544).
The RP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 29785639).
The RPE65 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 348473), and retinitis pigmentosa (RP) (MedGen UID: 462436). One variant in the RPE65 gene (p.Asp477Gly) is associated with autosomal dominant retinal dystrophy with choroidal involvement (PMID: 21654732, 27307694), and if detected is present in the Results Table and Variant Details.
The RPGR gene is associated with X-linked primary ciliary dyskinesia (PMID: 16055928), retinitis pigmentosa (MedGen UID: 336999) and cone-rod dystrophy (MedGen UID: 336777).
The ORF15 isoform of RPGR is associated with X-linked retinitis pigmentosa (MedGen UID: 336999) and cone-rod dystrophy (MedGen UID: 336777).
The RPGRIP1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 344245) and cone-rod dystrophy (CRD) (MedGen UID: 413025).
The RPGRIP1L gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The RRAGA gene is associated with autosomal dominant juvenile-onset cataracts (PMID: 27294265). Additionally, the RRAGA gene has preliminary evidence supporting a correlation with congenital heart defects (PMID: 28991257).
The RS1 gene is associated with X-linked juvenile retinoschisis (XLRS) (MedGen UID: 82863).
The RTN4IP1 gene is associated with autosomal recessive optic atrophy (MedGen: 905727).
The SAG gene is associated with autosomal recessive Oguchi disease type 1 (MedGen UID: 224927) and autosomal dominant retinitis pigmentosa (PMID: 28549094).
The SALL2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with coloboma (PMID: 24412933).
The SALL4 gene is associated with a spectrum of autosomal dominant SALL4-related disorders: Duane-radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and Holt-Oram syndrome (HOS) (MedGen UID: 301647, 831194, 833793). Additionally, the SALL4 gene has preliminary evidence supporting a correlation with autosomal recessive microphthalmia, anophthalmia, coloboma spectrum (MAC) (PMID: 27661448).
The SAMD11 gene is associated with autosomal recessive retinitis pigmentosa (PMID: 27734943). Additionally, the SAMD11 gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 27734943).
The SC5D gene is associated with autosomal recessive lathosterolosis (MedGen UID: 375885).
The SCLT1 gene is associated with autosomal recessive orofaciodigital syndrome IX (OFD9) (PMID: 24285566, 27894351) and autosomal recessive nonsyndromic retinitis pigmentosa (PMID: 28005958). Additionally, the SCLT1 gene has preliminary evidence supporting a correlation with autosomal recessive Senior-Loken syndrome (PMID: 30425282).
The SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and Senior-Loken syndrome (MedGen UID: 462227).
The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).
The SEMA4A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 16199541, 26856745) and cone-rod dystrophy (PMID: 26103963).
The SGSH gene is associated with autosomal recessive mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome A (MedGen UID: 39264).
The SH3PXD2B gene is associated with autosomal recessive Frank-Ter Haar syndrome (FTHS) (MedGen UID: 383652).
The SHH gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 327125).
The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).
The SIPA1L3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (MedGen UID: 895198; PMID: 25804400) and West syndrome (PMID: 29667327).
The SIX3 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 322517).
The SIX6 gene is associated with autosomal recessive optic disc anomalies with retinal and/or macular dystrophy (ODRMD) (PMID: 23167593, 24702266).
The SLC16A12 gene is associated with autosomal dominant juvenile cataract with microcornea (MedGen UID: 934773).
The SLC24A1 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID:462543). Additionally, the SLC24A1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 12037007).
The SLC24A5 gene is associated with autosomal recessive oculocutaneous albinism (OCA) (MedGen UID: 811705).
The SLC33A1 gene is associated with autosomal recessive congenital cataracts, hearing loss, and neurodegeneration (MedGen UID: 482595). Additionally, the SLC33A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary spastic paraplegia 42 (SPG42) (MedGen UID: 393407).
The SLC38A8 gene is associated with autosomal recessive foveal hypoplasia (MedGen UID: 814203).
The SLC45A2 gene is associated with autosomal recessive oculocutaneous albinism type 4 (OCA4) (MedGen UID: 338324).
The SLC4A11 gene is associated with autosomal recessive corneal endothelial dystrophy 2 (CHED2) (MedGen UID: 387857) and corneal dystrophy and perceptive deafness (CDPD) (MedGen UID: 387858). Additionally, the SLC4A11 gene has preliminary evidence supporting a correlation with autosomal dominant Fuchs corneal dystrophy (FCD) (PMID: 23585771).
The SLC4A4 gene is associated with autosomal recessive proximal renal tubular acidosis (MedGen UID: 370883). Additionally, the SLC4A4 gene has preliminary evidence supporting a correlation with keratopathy (PMID: 29671668, 28754144).
The SLC7A14 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (PMID: 24670872).
The SMCHD1 gene is associated with digenic inheritance of facioscapulohumeral muscular dystrophy 2 (FSHD2) (MedGen UID: 320405) with D4Z4 hypomethylation (permissive 4qA allele), and autosomal dominant Bosma arhinia microphthalmia syndrome (BAMS) (MedGen UID: 355084).
The SMOC1 gene is associated with autosomal recessive ophthalmo-acromelic syndrome (MedGen UID: 154638).
The SNRNP200 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 332080) and autosomal recessive retinitis pigmentosa (PMID: 31260034).
The SOX2 gene is associated with autosomal dominant syndromic microphthalmia (MedGen UID: 347232) and a developmental disorder without microphthalmia (PMID: 34562068).
The SOX3 gene is associated with X-linked panhypopituitarism (MedGen UID: 87439).
The SPATA7 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 346964), and retinitis pigmentosa (RP) (MedGen UID: 20551).
The SPP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (RP) (PMID: 26459573).
The STRA6 gene is associated with autosomal recessive isolated microphthalmia 8 with coloboma (MCOPCB8) (MedGen UID: 761921) and syndromic microphthalmia 9 (MCOPS9) (MedGen UID: 318679).
The TACSTD2 gene is associated with autosomal recessive gelatinous drop-like corneal dystrophy (GDLD) (MedGen UID: 90939).
The TAX1BP3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dilated cardiomyopathy with septo-optic dysplasia (PMID: 25645515).
The TBC1D20 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 816595).
The TCTN1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 481661).
The TCTN2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TCTN3 gene is associated with autosomal recessive Joubert syndrome (Medgen UID: 766672) and orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358).
The TDRD7 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 462654).
The TEAD1 gene is associated with autosomal dominant Sveinsson chorioretinal atrophy (SCRA) (MedGen UID: 354733). Additionally, the TEAD1 gene has preliminary evidence supporting a correlation with autosomal dominant Aicardi syndrome (PMID: 26091538).
The TEK gene is associated with autosomal dominant primary congenital glaucoma (MedGen UID: 934606) and autosomal dominant multiple cutaneous and mucosal venous malformations (VMCM) (MedGen UID: 325026).
The TENM3 gene is associated with autosomal recessive microphthalmia with coloboma (MCOPCB) (MedGen UID: 767506).
The TFAP2A gene is associated with autosomal dominant branchiooculofacial syndrome (BOFS) (MedGen UID: 91261).
The TGFBI gene is associated with autosomal dominant and autosomal recessive corneal dystrophy (MedGen UID: 220900, 99275, 351521, 305533, 332989, 83284, 287070, 42290, PMID: 33772078, 33816482, 25932442, 17893542).
The TIMM8A gene is associated with X-linked recessive Mohr-Tranebjaerg syndrome (MedGen UID: 162903), also referred to as deafness-dystonia-optic neuronopathy (DDON) syndrome, or Jensen syndrome.
The TIMP3 gene is associated with autosomal dominant Sorsby fundus dystrophy (SFD) (MedGen UID: 338164). Additionally, the TIMP3 gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 32715858).
The TMED7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinal dystrophy (PMID: 29320387).
The TMEM107 gene is associated with with autosomal recessive Joubert syndrome (PMID: 26123494, 26595381). In addition, there is preliminary evidence supporting a correlation with autosomal recessive oro-facio-digital syndrome (OFD) (PMID: 28289185, 26595381, 26518474).
The TMEM126A gene is associated with autosomal recessive optic atrophy 7 (OPA7) (MedGen UID: 414112).
The TMEM138 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482536) . In addition, there is preliminary evidence suggesting a correlation with autosomal recessive oro-facio-digital syndrome (OFD)(PMID: 28289185)
The TMEM216 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM231 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM237 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482396).
The TMEM67 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).
The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).
The TOPORS gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 372159).
The TRAF3IP1 gene is associated with autosomal recessive Senior-Loken syndrome (MedGen UID: 899086) and autosomal recessive short-rib thoracic dysplasia (PMID: 29068549).
The TRAPPC3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (PMID: 27894351).
The TREX1 gene is associated with autosomal recessive (and rarely, autosomal dominant) Aicardi-Goutieres syndrome 1 (AGS1) (MedGen ID: 162912), autosomal dominant familial chilblain lupus (CHBL1) (MedGen UID: 479249), and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL) (MedGen UID: 348124). In addition, the TREX1 gene has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818).
The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID: 78750).
The TRNT1 gene is associated with autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) (MedGen UID: 863609) and retinitis pigmentosa with erythrocytic microcytosis (RPEM) (MedGen UID: 934743).
The TRPM1 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 416373). Additionally, the TRPM1 gene has preliminary evidence supporting a correlation with retinal dystrophy (PMID: 30029497).
The TSPAN12 gene is associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) (MedGen UID: 412872).
The TTC21B gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462536) and asphyxiating thoracic dystrophy (MedGen UID: 462535).
The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347181) and nonsyndromic retinitis pigmentosa (MedGen UID: 462065).
The TTLL5 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 862938).
The TTPA gene is associated with autosomal recessive ataxia with vitamin E deficiency (AVED) (MedGen UID: 341248).
The TUB gene is associated with autosomal recessive retinal dystrophy (Pubmed ID: 24375934).
The TUBGCP4 gene is associated with autosomal recessive microcephaly with chorioretinopathy (MedGen UID: 902924).
The TUBGCP6 gene is associated with autosomal recessive microcephaly and chorioretinopathy (MedGen UID: 480111).
The TULP1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 462556) and retinitis pigmentosa (RP) (MedGen UID: 325056).
The TYR gene is associated with autosomal recessive oculocutaneous albinism type 1A (OCA1A) (MedGen UID: 1643910) and type 1B (OCA1B) (MedGen UID: 337712).
The TYRP1 gene is associated with autosomal recessive oculocutaneous albinism type 3 (MedGen UID: 87450).
The UBE3B gene is associated with autosomal recessive Kaufman oculocerebrofacial syndrome (MedGen UID: 343403).
The UBIAD1 gene is associated with autosomal dominant Schnyder type corneal dystrophy (SCD) (MedGen UID: 124391).
The UNC119 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant cone-rod dystrophy and retinitis pigmentosa (PMID: 23563732, 26992781).
The UNC45B gene is associated with autosomal recessive myofibrillar myopathy (MedGen UID: 977890). Additionally, there is preliminary evidence supporting a correlation with autosomal dominant cataract (MedGen UID: 901691).
The USH1C gene is associated with autosomal recessive Usher syndrome type 1C (MedGen UID: 292820) and nonsyndromic deafness (MedGen UID: 356389)
The USH1G gene is associated with autosomal recessive Usher syndrome, type 1G (USH1G) (MedGen UID: 339683). Additionally, the USH1G gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (PMID: 25798947, 25255398).
The USH2A gene is associated with autosomal recessive Usher syndrome, type 2A (USH2A) (MedGen UID: 338513) and retinitis pigmentosa (RP) (MedGen UID: 462488). Additionally, the USH2A gene has preliminary evidence supporting a correlation with autosomal recessive nonsyndromic deafness (PMID: 28000701, 23767834, 24853665, 24875298).
The VAX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive syndromic microphthalmia (MCOPS) (MedGen UID: 765991).
The VCAN gene is associated with autosomal dominant Wagner syndrome (MedGen UID: 452438) and retinitis pigmentosa (RP) (PMID: 26720455). Additionally, the VCAN gene has preliminary evidence supporting a correlation with congenital heart disease (PMID: 27058611) and early tooth loss (PMID: 30740127).
The VIM gene is associated with autosomal dominant congenital cataracts (MedGen UID: 811741).
The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).
The VSX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant keratoconus (MedGen UID: 372103) and craniofacial anomalies and anterior segment dysgenesis syndrome (MedGen UID: 481729).
The VSX2 gene is associated with autosomal recessive Microphthalmia/Anophthalmia/Coloboma (MAC) Spectrum (MedGen UID: 400598).
The WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).
The WDR19 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (ATD) (MedGen UID: 482228), nephronophthisis (NPHP) (OMIM ID: 614377), Senior-Loken syndrome (SLS) (MedGen UID: 905171), and nonsyndromic retinitis pigmentosa (PMID: 23683095).
The WDR34 gene is associated with autosomal recessive short-rib thoracic dysplasia (SRTD) 11 (MedGen UID: 816530). Additionally, the WDR34 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (also known as rod-cone dystrophy, or RCD) (PMID: 33124039).
The WDR36 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant early onset glaucoma (PMID: 29104481, 31367175).
The WDR87 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive congenital cataracts (PMID: 26622071).
The WFS1 gene is associated with autosomal recessive Wolfram syndrome (MedGen UID: 1641635) and autosomal dominant Wolfram-like syndrome (MedGen UID: 481988) and nonsyndromic low-frequency sensorineural deafness (MedGen UID: 331419). Additionally, the WFS1 gene has preliminary evidence supporting a correlation with cerebellar ataxia (PMID: 25133958) and autosomal dominant congenital cataracts (MedGen UID: 811742).
The WHRN gene is associated with autosomal recessive Usher syndrome type 2D (MedGen UID: 292821) and nonsyndromic deafness (MedGen UID: 339621).
The WNT2B gene is associated with an autosomal recessive oculo-intestinal syndrome (MedGen UID: 1648425; PMID: 33526876).
The WRN gene is associated with autosomal recessive Werner syndrome (WS) (MedGen UID: 12147).
The XYLT2 gene is associated with autosomal recessive spondyloocular syndrome (MedGen UID: 900371).
The YAP1 gene is associated with an autosomal dominant syndrome involving ocular coloboma with or without deafness, cleft lip/palate, and/or intellectual disability (MedGen UID: 811762).
The ZDBF2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant nasopelpebral lipoma-coloboma syndrome (NPLCS) (PMID: 27139419).
The ZEB1 gene is associated with autosomal dominant posterior polymorphous corneal dystrophy 3 (PPCD3) (MedGen UID: 322978).
The ZIC2 gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 355304).
The ZNF143 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive intracellular cobalamin deficiency (PMID: 27349184) and autosomal dominant endothelial corneal dystrophy (PMID: 31390831).
The ZNF408 gene is associated with autosomal dominant exudative vitreoretinopathy (EVR) (MedGen UID: 902559) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 895867; PMID: 25882705).
The ZNF423 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 761313).
The ZNF469 gene is associated with autosomal recessive brittle cornea syndrome (MedGen UID: 78661).
The ZNF513 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 29320387, 20797688).
