Ophthalmology

36 genes

Invitae Macular Dystrophy Panel

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The Invitae Macular Dystrophy Panel analyzes genes that are associated with disorders causing macular dystrophy and conditions with similar clinical presentations. These are genetically heterogeneous disorders characterized primarily by central vision loss and atrophy of the macula and underlying retinal pigment epithelium.

23 genes

Invitae Oculocutaneous Albinism Panel

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The Invitae Oculocutaneous Albinism Panel analyzes genes that are associated with syndromic and nonsyndromic forms of oculocutaneous albinism which is characterized by hypopigmentation of the hair, skin, and eyes. These genes were selected based on the available evidence to date to provide a broad analysis for inherited oculocutaneous albinism.

8 genes

Invitae Septo-optic Dysplasia Panel

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The Invitae Septo-optic Dysplasia Panel analyzes genes that are associated with disorders causing septo-optic dysplasia and conditions with similar clinical presentation. These are genetically heterogeneous disorders characterized primarily by hypoplasia of the optic nerves, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia. These genes were selected based on the available evidence to date to provide a broad analysis for inherited septo-optic dysplasia.

6 genes

Invitae Alport Syndrome Panel

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Genetic testing for genes associated with Alport syndrome which is generally characterized by renal disease and deafness with possible ocular findings including anterior lenticonus and cataract.

9 genes

Invitae Stickler Syndrome Panel

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Genetic testing for genes associated with Stickler syndrome is generally characterized by skeletal, ocular, facial, and audiological abnormalities. These clinical features overlap with other genetic conditions such as Donnai-Barrow syndrome and Wagner syndrome, which are also included in this panel. Stickler syndrome is genetically heterogeneous, and broad panel testing allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication.

27 genes

Invitae Glaucoma Panel

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Genetic testing for genes associated with glaucoma, a condition that typically affects both eyes, causes reduced visual acuity and restricted visual fields, and leads to blindness, if untreated. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

328 genes

Invitae Inherited Retinal Disorders Panel

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The Invitae Inherited Retinal Disorders Panel analyzes genes that are associated with inherited retinal disorders including but not limited to retinitis pigmentosa, cone-rod dystrophy and Leber congenital amaurosis. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication.

28 genes

Invitae Bardet-Biedl Syndrome Panel

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The Invitae Bardet-Biedl Syndrome Panel analyzes genes that are associated with Bardet-Biedl Syndrome (BBS), which is characterized by truncal obesity, cognitive impairment rod-cone dystrophy, and renal abnormalities. These genes were selected based on the available evidence to date to provide a broad analysis for BBS.

up to 107 genes

Invitae Cataracts Panel

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The Invitae Cataracts Panel analyzes genes that are associated with cataracts, a condition characterized by lens opacity. These genes were selected based on the available evidence to date to provide a broad analysis for inherited cataracts.

3 genes

Invitae Early-Onset Glaucoma Panel

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Genetic testing for CYP1B1, which is associated with primary congenital glaucoma, as well as for FOXC1 and PITX2, which are associated with Axenfeld-Rieger syndrome (ARS). Early-onset glaucoma is a common finding of ARS.

up to 21 genes

Invitae Microphthalmia/Anophthalmia Disorders Panel

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Genetic testing for up to 21 genes associated with microphthalmia and/or anophthalmia, which is characterized by an absent or abnormally small eye with a short axial length.

1 gene

Invitae Oculo-Facio-Cardio-Dental Syndrome Test

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Genetic testing for BCOR, the primary gene associated with oculo-facio-cardio-dental (OFCD) syndrome and Lenz microphthalmia (LMS).

Gene
A
ABCA3

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).

ABCA4

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).

ABCB6

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

ABCC6

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

ABHD12

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

ACBD5

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

ACO2

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

ADAM9

The ADAM9 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 244692).

ADAMTS18

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

ADAMTSL4

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

ADGRA3

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).

ADGRV1

The ADGRV1 gene is associated with autosomal recessive Usher syndrome type 2C (MedGen UID: 419359), retinitis pigmentosa (PMID: 26667666) and nonsyndromic deafness (PMID: 32467589, 26226137, 31379920). Additionally, the ADGRV1 gene has preliminary evidence supporting a correlation with autosomal dominant epilepsy (PMID: 29266188).

ADIPOR1

The ADIPOR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 27655171) and autosomal recessive syndromic retinitis pigmentosa (PMID: 26662040).

AGBL5

The AGBL5 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934726).

AGK

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).

AHI1

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

AHR

The AHR gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 941270).

AIPL1

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

ALDH18A1

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).

ALDH1A3

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

ALMS1

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

AP3B1

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

AP3D1

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).

ARHGEF18

The ARHGEF18 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 1378790).

ARL13B

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

ARL2BP

The ARL2BP is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 815833).

ARL3

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

ARL6

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

ARMC9

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

ARSG

The ARSG gene is associated with autosomal recessive Usher syndrome (MedGen UID: 1648315).

ASB10

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).

ASRGL1

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).

ATF6

The ATF6 gene is associated with autosomal recessive achromatopsia (ACHM) (MedGen UID: 904646).

ATOH7

The ATOH7 gene is associated with autosomal recessive persistent hyperplastic primary vitreous (PHPVAR) (MedGen UID: 370100).

B
B9D1

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

BBIP1

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).

BBS1

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

BBS10

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

BBS12

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

BBS2

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

BBS4

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

BBS5

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 856141) and nonsyndromic retinitis pigmentosa (PMID: 28041643, 24154662).

BBS7

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

BBS9

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).

BCOR

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

BEST1

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

BFSP1

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

BFSP2

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

BLOC1S3

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

BLOC1S6

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

BMP4

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).

C
C10orf11

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

C12orf65

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).

C1QTNF5

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

C8orf37

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).

CA4

The CA4 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 322153; PMID: 15090652).

CABP4

The CABP4 gene is associated with autosomal recessive congenital non-progressive cone-rod synaptic disorder (CRSD) (MedGen UID: 874422).

CACNA1F

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).

CACNA2D4

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).

CAPN5

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).

CC2D2A

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

CCT2

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).

CDH23

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

CDH3

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).

CDHR1

The CDHR1 gene is associated with autosomal recessive cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) (MedGen UID: 462262).

CEP164

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

CEP19

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

CEP250

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).

CEP290

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).

CEP41

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

CEP78

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

CEP83

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

CERKL

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

CFAP410

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).

CFI

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).

CHD7

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

CHM

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

CHMP4B

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

CHST6

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

CIB2

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).

CISD2

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

CLCC1

The CLCC1 gene is associated with autosomal recessive retinitis pigmentosa (MedGen UID: 322781).

CLN2 (TPP1)

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

CLN3

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).

CLN5

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

CLN6

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

CLN8

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

CLRN1

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

CLUAP1

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).

CNGA1

The CNGA1 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462409).

CNGA3

The CNGA3 gene is associated with autosomal recessive achromatopsia (MedGen UID: 387867) and cone-rod dystrophy (PMID: 24903488).

CNGB1

The CNGB1 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID 462416).

CNGB3

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).

CNNM4

The CNNM4 gene is associated with autosomal recessive Jalili syndrome (MedGen UID: 501210).

COL11A1

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).

COL11A2

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).

COL18A1

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

COL2A1

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).

COL4A1

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).

COL4A2

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

COL8A2

The COL8A2 gene is associated with autosomal dominant corneal dystrophy (MedGen UID: 377757, 338172).

COL9A1

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).

COL9A2

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).

COL9A3

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

CPLANE1

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).

CRB1

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

CRX

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

CRYAA

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).

CRYAB

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

CRYBA1

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).

CRYBA4

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).

CRYBB1

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

CRYBB2

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

CRYBB3

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

CRYGB

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).

CRYGC

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

CRYGD

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

CRYGS

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

CSPP1

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

CTDP1

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

CTNNA1

The CTNNA1 gene is associated with autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348). Additionally, CTNNA1 has preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse gastric cancer; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 23208944, 26182300, 32051609). This result should be considered in the context of personal and family history of diffuse gastric cancer and may warrant additional surveillance (PMID: 32758476). To date, loss-of-function variants in CTNNA1 have not been associated with butterfly-shaped pigmentary macular dystrophy.

CTSD

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

CWC27

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

CYP1B1

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).

CYP27A1

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

CYP4V2

The CYP4V2 gene is associated with autosomal recessive Bietti crystalline dystrophy (BCD) (MedGen UID: 347895) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 400996)

CYP51A1

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).

D
DHDDS

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).

DHX32

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).

DHX38

The DHX38 gene is associated with autosomal recessive early-onset retinitis pigmentosa with or without macular coloboma (MedGen UID: 1648352).

DNAJC17

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).

DRAM2

The DRAM2 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 850969).

DSCAML1

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).

DTHD1

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).

DTNBP1

The DTNBP1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 481386).

E
EFEMP1

The EFEMP1 gene is associated with autosomal dominant Doyne honeycomb retinal dystrophy (DHRD) (MedGen UID: 321900). Additionally, the EFEMP1 gene has preliminary evidence supporting a correlation with autosomal dominant primary open-angle glaucoma (PMID: 26162006).

ELOVL4

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).

EMC1

The EMC1 gene is associated with 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).

EPG5

The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).

EPHA2

The EPHA2 gene is associated with autosomal dominant and autosomal recessive congenital cataracts (MedGen UID: 396229).

ERCC2

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).

ERCC5

The ERCC5 gene is associated with autosomal recessive xeroderma pigmentosum (XP) (MedGen UID: 75657), cerebrooculofacioskeletal (COFS) syndrome (MedGen UID: 342008), and XP/Cockayne syndrome (PMID: 23370536).

ERCC6

The ERCC6 gene is associated with autosomal recessive Cockayne syndrome B (MedGen UID: 155487) and cerebrooculofacioskeletal syndrome (MedGen UID: 66320).

ERCC8

The ERCC8 gene is associated with autosomal recessive Cockayne syndrome type A (MedGen UID: 155488) and UV-sensitive syndrome (MedGen UID: 766212).

EXO5

The EXO5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with primary congenital glaucoma (PMID: 22219654).

EXOSC2

The EXOSC2 gene is associated with autosomal recessive short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) (MedGen UID: 1615526).

EYA1

The EYA1 gene is associated with autosomal dominant forms of branchiootorenal spectrum disorders (MedGen UID: 351307, 82693).

EYS

The EYS gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 350427).

F
FAM126A

The FAM126A gene is associated with autosomal recessive hypomyelination and congenital cataracts (HCC) (MedGen UID: 501134).

FAM161A

The FAM161A gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 244030).

FBLN5

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).

FBN3

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).

FLVCR1

The FLVCR1 gene is associated with autosomal recessive posterior column ataxia with retinitis pigmentosa (MedGen UID: 324636).

FOXC1

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).

FOXE3

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

FRMD7

The FRMD7 gene is associated with X-linked infantile nystagmus (MedGen UID: 333352).

FSCN2

The FSCN2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinal dystrophies (PMID: 16280978, 17251446).

FTL

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).

FYCO1

The FYCO1 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 351249)

FZD4

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).

G
GALK1

The GALK1 gene is associated with autosomal recessive galactokinase galactosemia (MedGen UID: 120614).

GALT

The GALT gene is associated with autosomal recessive galactosemia (MedGen UID:344772).

GCNT2

The GCNT2 gene is associated with autosomal recessive cataracts with adult i phenotype (MedGen UID: 811703).

GDF3

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).

GDF6

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).

GFER

The GFER gene is associated with autosomal recessive mitochondrial myopathy (MedGen UID: 416525).

GJA1

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

GJA3

The GJA3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 356152)

GJA8

The GJA8 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 349374) and autosomal recessive congenital cataracts (PMID: 21720542).

GLI2

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).

GNAT1

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).

GNAT2

The GNAT2 gene is associated with autosomal recessive achromatopsia (MedGen UID: 330669).

GNB3

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).

GNPTG

The GNPTG gene is associated with autosomal recessive mucolipidosis type III gamma (ML III gamma) (MedGen UID: 340743).

GNS

The GNS gene is associated with autosomal recessive mucopolysaccharidosis type IIID (MPS IIID or Sanfilippo D) (MedGen UID: 88602).

GPR143

The GPR143 gene is associated with X-linked congenital nystagmus (MedGen UID: 463102) and ocular albinism (MedGen UID: 90991).

GPR179

The GPR179 gene is associated with autosomal recessive congenital stationary night blindness (MedGen UID: 482845).

GPR45

The GPR45 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with cone-rod dystrophy (PMID: 29320387).

GRM6

The GRM6 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 342484).

GRN

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).

GUCA1A

The GUCA1A gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 356104).

GUCA1B

The GUCA1B gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 462540).

GUCY2D

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).

H
HARS

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

HESX1

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).

HGSNAT

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).

HK1

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).

HMCN1

The HMCN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration (MedGen UID: 400475).

HMX1

The HMX1 gene is associated with autosomal recessive oculoauricular syndrome (MedGen UID: 393758).

HPS1

The HPS1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 1 (HPS1) (MedGen UID: 419514).

HPS3

The HPS3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 3 (HPS3) (MedGen UID: 854708).

HPS4

The HPS4 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 483344).

HPS5

The HPS5 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854711).

HPS6

The HPS6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854714).

HSF4

The HSF4 gene is associated with autosomal dominant and autosomal recessive cataracts (MedGen UID: 854893).

I
IDH3A

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).

IDH3B

The IDH3B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 382614), autosomal dominant congenital heart defects (PMID: 28991257), and autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 28720665).

IFT140

The IFT140 gene is associated with autosomal recessive Mainzer-Saldino syndrome (MedGen UID: 341455), and retinitis pigmentosa (MedGen UID: 1619674).

IFT172

The IFT172 gene is associated with autosomal recessive Bardet-Biedl syndrome (PMID: 26763875), short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505), and non-syndromic retinitis pigmentosa (PMID: 25168386).

IFT27

The IFT27 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 855173).

IFT43

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).

IFT74

The IFT74 gene is associated with autosomal recessive Joubert syndrome (PMID: 33531668). Additionally, the IFT74 gene has preliminary evidence supporting a correlation with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 934674), autosomal recessive asphyxiating thoracic dystrophy (ATD) (PMID: 33875766), autosomal dominant amyotrophic lateral sclerosis (ALS) (PMID: 17166276), and autosomal recessive multiple morphological abnormalities of the sperm flagella (MMAF) (PMID: 33770252).

IFT80

The IFT80 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (MedGen UID: 468503).

IFT81

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).

IFT88

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).

IMPDH1

The IMPDH1 gene is associated with autosomal dominant 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).

IMPG1

The IMPG1 gene is associated with autosomal dominant macular dystrophy (MedGen UID: 863779; PMID: 23993198) and autosomal dominant retinitis pigmentosa (PMID: 32817297). Additionally, the IMPG1 gene has preliminary evidence supporting a correlation with autosomal recessive macular dystrophy (PMID: 23993198) and autosomal recessive retinitis pigmentosa (PMID: 32817297).

IMPG2

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).

INPP5E

The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502) and retinitis pigmentosa (PMID: 29555955, 28559085, 29186038).

INVS

The INVS gene is associated with autosomal recessive infantile nephronophthisis (MedGen UID: 355574).

IQCB1

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).

ITM2B

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).

J
JAG1

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

JAM3

The JAM3 gene is associated with autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) (MedGen UID: 462350).

K
KCNJ13

The KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 481692).

KCNV2

The KCNV2 gene is associated with autosomal recessive retinal cone dystrophy (RCD) (MedGen UID: 332081).

KIAA0586

The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) (MedGen UID: 901479).

KIAA1549

The KIAA1549 gene is associated with autosomal recessive retinitis pigmentosa (RP) (PMID: 23105016, 30120214, 28512305).

KIF11

The KIF11 gene is associated with autosomal dominant microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MCLID) (MedGen UID: 320559).

KIF7

The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome (MedGen UID: 162915).

KIZ

The KIZ gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 862749).

KLHL7

The KLHL7 gene is associated with autosomal dominant retinitis pigmentosa (MedGen UID: 442864), autosomal recessive PERCHING syndrome (MedGen UID: 934709) and autosomal recessive Bohring-Optiz-like syndrome (PMID: 29074562, 31953236).

L
LCA5

The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 388031).

LEMD2

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).

LIM2

The LIM2 gene is associated with autosomal recessive and autosomal dominant congenital cataracts (MedGen UID: 815334, PMID: 32202185, 33078099).

LMX1B

The LMX1B gene is associated with autosomal dominant nail-patella syndrome (NPS) (MedGen UID: 10257) and focal segmental glomerulosclerosis (FSGS)(PMID: 23687361, 26560070).

LONP1

The LONP1 gene is associated with autosomal recessive cerebral, ocular, dental, auricular and skeletal anomalies (CODAS) syndrome (MedGen UID: 333031).

LRAT

The LRAT gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 442375), and early-onset retinitis pigmentosa (RP) (MedGen UID: 442376).

LRIT3

The LRIT3 gene is associated with autosomal recessive congenital stationary night blindness (CSNB) (MedGen UID: 767313).

LRP2

The LRP2 gene is associated with autosomal recessive Donnai-Barrow syndrome (DBS) (MedGen UID: 347406).

LRP5

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).

LSS

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).

LTBP2

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) and autosomal recessive Marfan-like syndrome (PMID: 22539340).

LYST

The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).

LZTFL1

The LZTFL1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 811538).

M
MAB21L2

The MAB21L2 gene is associated with autosomal dominant syndromic microphthalmia/coloboma and skeletal dysplasia syndrome (MedGen UID: 862977).

MAF

The MAF gene is associated with autosomal dominant Ayme-Gripp syndrome (MedGen UID: 371416).

MAK

The MAK gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 481672).

MAPKAPK3

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).

MERTK

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).

MFN2

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).

MFRP

The MFRP gene is associated with autosomal recessive posterior microphthalmos/nanophthalmos and retinal dystrophy (PMID: 22605927, 17167404, 19753314, 18554571).

MFSD8

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

MIP

The MIP gene is associated with autosomal dominant congenital cataracts (MedGen UID: 815331).

MIR184

The MIR184 gene is associated with autosomal dominant endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome (MedGen UID: 482022).

MIR204

The MIR204 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant retinal dystrophy and iris coloboma (PMID: 26056285).

MKKS

The MKKS gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and McKusick-Kaufman syndrome (MedGen UID: 184924).

MKS1

The MKS1 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

MLPH

The MLPH gene is associated with autosomal recessive Griscelli syndrome, type 3 (GS3) (MedGen UID: 373124).

MPDZ

The MPDZ gene is associated with autosomal dominant retinitis pigmentosa (PMID: 21862650) and autosomal recessive congenital hydrocephalus (MedGen UID: 767605).

MTPAP

The MTPAP gene is associated with autosomal recessive spastic ataxia 4 (SPAX4) (MedGen UID: 462275).

MTTP

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

MYH9

The MYH9 gene is associated with autosomal dominant MYH9-related disorders (MYH9RD) (MedGen UID: 441714) and nonsyndromic deafness (MedGen UID: 350942).

MYO5A

The MYO5A gene is associated with autosomal recessive Griscelli syndrome, type 1 (GS1) (MedGen UID: 347092).

MYO7A

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).

MYOC

The MYOC gene is associated with autosomal dominant primary open angle glaucoma (POAG) (MedGen UID: 333974).

N
NAGLU

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).

NBAS

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).

NDP

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).

NEK2

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).

NEUROD1

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).

NF2

The NF2 gene is associated with autosomal dominant neurofibromatosis type 2 (NF2) (MedGen UID: 18014).

NHS

The NHS gene is associated with X-linked Nance-Horan syndrome (MedGen UID: 208665).

NMNAT1

The NMNAT1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 325277).

NPHP1

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).

NPHP3

The NPHP3 gene is associated with autosomal recessive ciliopathies including nephronopthisis (MedGen UID: 346809), Meckel-Gruber syndrome (MedGen UID: 382217), and renal-hepatic-pancreatic dysplasia (MedGen UID: 811626).

NPHP4

The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthisis (MedGen UID: 339667) and Senior-Loken syndrome, type 4 (MedGen UID: 337697).

NR2E3

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).

NR2F1

The NR2F1 gene is associated with autosomal dominant Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) (MedGen UID: 816693).

NRL

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).

NYX

The NYX gene is associated with X-linked congenital stationary night blindness, type 1A (CSNB1A) (MedGen UID: 326921).

O
OAT

The OAT gene is associated with autosomal recessive gyrate atrophy of choroid and retina (GACR) (MedGen UID: 109343).

OCA2

The OCA2 gene is associated with autosomal recessive oculocutaneous albinism (OCA) type 2 (MedGen UID: 82810).

OCRL

The OCRL gene is associated with X-linked recessive Lowe syndrome (MedGen UID: 18145) and Dent disease (MedGen UID: 931198).

OFD1

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) and X-linked recessive primary ciliary dyskinesia (PCD) (PMID: 16783569). Additionally, the OFD1 gene has preliminary evidence supporting a correlation with X-linked recessive retinitis pigmentosa (RP) (MedGen UID: 238456).

OPA1

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

OPA3

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).

OPN1SW

The OPN1SW gene is associated with autosomal dominant tritanopia (MedGen UID: 57827).

OPTN

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).

OR2W3

The OR2W3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 25783483).

OTX2

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) and agnathia-otocephaly complex (PMID: 27442045, 22577225). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790).

P
P3H2

The P3H2 gene is associated with autosomal recessive myopia with cataract and vitreoretinal degeneration (MedGen UID: 481976).

PAX2

The PAX2 gene is associated with autosomal dominant papillorenal syndrome (MedGen UID: 339002). Additionally, the PAX2 gene has preliminary evidence supporting a correlation with autosomal dominant focal segmental glomerulosclerosis (FSGS) (MedGen UID: 807486; PMID: 24676634).

PAX6

The PAX6 gene is associated with autosomal dominant Peters anomaly (MedGen UID: 934776), aniridia (MedGen UID: 576337), keratitis (MedGen UID: 332039) and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has preliminary evidence supporting a correlation with autosomal dominant Gillespie syndrome (PMID: 17595013) and foveal hypoplasia (MedGen UID: 811934). Deletions of PAX6 are part of a contiguous gene deletion syndrome: Wilms tumor, aniridia, genitourinary anomalies and intellectual disability (WAGR) syndrome (MedGen UID: 64512).

PCARE

The PCARE gene (formerly known as C2orf71) is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462041).

PCDH15

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).

PCYT1A

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).

PDE6A

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).

PDE6B

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).

PDE6C

The PDE6C gene is associated with autosomal recessive achromatopsia (MedGen UID: 57751) and retinal cone dystrophy (MedGen UID: 416518).

PDE6D

The PDE6D gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 816608).

PDE6G

The PDE6G gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 462171).

PDE6H

The PDE6H gene is associated with autosomal recessive achromatopsia (MedGen UID: 57751).

PDZD7

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).

PEX1

The PEX1 gene is associated with autosomal recessive Zellweger spectrum disorders (ZSD) (MedGen UID: 489910, 343498, 21958, 1647369).

PEX10

The PEX10 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766861, MedGen UID: 766862).

PEX11B

The PEX11B gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766969), also referred to as peroxisome biogenesis disorder 14B.

PEX12

The PEX12 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766843, 79470).

PEX13

The PEX13 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766914, 766915).

PEX14

The PEX14 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766918).

PEX16

The PEX16 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 330407, 766873, 766874).

PEX19

The PEX19 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766916).

PEX2

The PEX2 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766854, 762202).

PEX26

The PEX26 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 761334, 766865).

PEX3

The PEX3 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766913).

PEX5

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).

PEX6

The PEX6 gene is associated with autosomal recessive Zellweger spectrum disorder (ZSD) (MedGen UID: 766850, 766851, 903520).

PEX7

The PEX7 gene is associated with autosomal recessive rhizomelic chondrodysplasia punctata (RCDP) (MedGen UID: 347072) and autosomal recessive Refsum disease (MedGen UID:11161).

PHYH

The PHYH gene is associated with autosomal recessive Refsum disease (MedGen UID: 11161).

PIK3R1

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).

PITPNM3

The PITPNM3 gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 322083).

PITX2

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).

PITX3

The PITX3 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 351162) and anterior segment mesenchymal dysgenesis (ASMD)(MedGen UID: 350766).

PLA2G5

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).

PLK4

The PLK4 gene is associated with autosomal recessive microcephaly and short stature with or without ocular anomalies (PMID: 25320347, 25344692, 27650967).

PNPLA6

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).

POC1B

The POC1B gene is associated with autosomal recessive cone-rod dystrophy (MedGen UID: 863293).

POC5

The POC5 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (PMID: 29272404).

POMGNT1

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

PPT1

The PPT1 gene is associated with autosomal recessive neuronal ceroid lipofuscinosis 1 (CLN1) (MedGen UID: 340540).

PRCD

The PRCD gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 351175).

PRDM13

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).

PROM1

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).

PROP1

The PROP1 gene is associated with autosomal recessive combined pituitary hormone deficiency (MedGen UID: 209236).

PRPF3

The PRPF3 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 371314).

PRPF31

The PRPF31 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 325055).

PRPF4

The PRPF4 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 863118).

PRPF6

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).

PRPF8

The PRPF8 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 325486) and primary open angle glaucoma (PMID: 28707069).

PRPH2

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), and central areolar choroidal dystrophy (CACD) (MedGen UID: 442696).

PRPS1

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).

PRSS56

The PRSS56 gene is associated with autosomal recessive isolated microphthalmia-6 (MCOP6) (MedGen UID: 462107).

PXDN

The PXDN gene is associated with autosomal recessive corneal opacification and other ocular anomalies (COPOA) (MedGen UID: 462967).

Q
R
RAB18

The RAB18 gene is associated with autosomal recessive autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 481833).

RAB27A

The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).

RAB28

The RAB28 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 815629).

RAB3GAP1

The RAB3GAP1 gene is associated with autosomal recessive autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 333142).

RAB3GAP2

The RAB3GAP2 gene is associated with autosomal recessive Warburg micro syndrome (WARBM) (MedGen UID: 472601).

RARB

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).

RAX

The RAX gene is associated with autosomal recessive isolated microphthalmia (MCOP) (MedGen UID: 370863).

RAX2

The RAX2 gene is associated with autosomal dominant cone-rod dystrophy (CRD) (MedGen UID: 322767) and autosomal recessive retinitis pigmentosa (RP) (PMID: 30377383).

RB1

The RB1 gene is associated with autosomal dominant retinoblastoma (MedGen UID: 20552). Additionally, evidence of varying degrees suggests a possible association between RB1 and several cancer types in retinoblastoma survivors (PMID: 14996857, 22355046).

RBP1

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).

RBP3

The RBP3 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 811638).

RBP4

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).

RCBTB1

The RCBTB1 gene is associated with autosomal recessive retinal dystrophy with or without extraocular anomalies (MedGen UID: 934647).

RD3

The RD3 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 347535 ).

RDH11

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).

RDH12

The RDH12 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 382544) and autosomal dominant retinitis pigmentosa (PMID: 18779497, 34031043).

RDH5

The RDH5 gene is associated with autosomal recessive fundus albipunctatus (FA) (MedGen UID: 86317).

RECQL4

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).

REEP6

The REEP6 gene is associated with autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 934593).

RGR

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).

RGS6

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).

RGS9

The RGS9 gene is associated with autosomal recessive bradyopsia (MedGen UID: 331206).

RGS9BP

The RGS9BP gene is associated with autosomal recessive bradyopsia (MedGen UID: 331206).

RHO

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).

RIMS1

The RIMS1 gene is associated with autosomal dominant cone-rod dystrophy (MedGen UID: 355026).

RLBP1

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) .

RNLS

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

ROM1

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).

RP1

The RP1 gene is associated with autosomal dominant and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 67395).

RP1L1

The RP1L1 gene is associated with autosomal dominant occult macular dystrophy (OCMD) (MedGen UID: 462183) and autosomal recessive retinitis pigmentosa (RP) (MedGen UID: 946424).

RP2

The RP2 gene is associated with X-linked retinitis pigmentosa (RP) (MedGen UID: 394544).

RP9

The RP9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with retinitis pigmentosa (RP) (PMID: 29785639).

RPE65

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 is associated with autosomal dominant retinal dystrophy with choroidal involvement (PMID: 21654732, 27307694).

RPGRIP1

The RPGRIP1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 344245) and cone-rod dystrophy (CRD) (MedGen UID: 413025).

RPGRIP1L

The RPGRIP1L gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

RRAGA

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).

RS1

The RS1 gene is associated with X-linked juvenile retinoschisis (XLRS) (MedGen UID: 82863).

RTN4IP1

The RTN4IP1 gene is associated with autosomal recessive optic atrophy (MedGen: 905727).

S
SAG

The SAG gene is associated with autosomal recessive Oguchi disease type 1 (MedGen UID: 224927) and autosomal dominant retinitis pigmentosa (PMID: 28549094).

SALL4

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).

SAMD11

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).

SC5D

The SC5D gene is associated with autosomal recessive lathosterolosis (MedGen UID: 375885).

SCLT1

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).

SDCCAG8

The SDCCAG8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019) and Senior-Loken syndrome (MedGen UID: 462227).

SEMA3E

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

SEMA4A

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).

SGSH

The SGSH gene is associated with autosomal recessive mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome A (MedGen UID: 39264).

SH3PXD2B

The SH3PXD2B gene is associated with autosomal recessive Frank-Ter Haar syndrome (FTHS) (MedGen UID: 383652).

SHH

The SHH gene is associated with autosomal dominant holoprosencephaly (MedGen UID: 327125).

SIL1

The SIL1 gene is associated with autosomal recessive Marinesco-Sjogren syndrome (MSS) (MedGen UID: 6222).

SIPA1L3

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).

SIX6

The SIX6 gene is associated with autosomal recessive optic disc anomalies with retinal and/or macular dystrophy (ODRMD) (PMID: 23167593, 24702266).

SLC16A12

The SLC16A12 gene is associated with autosomal dominant juvenile cataract with microcornea (MedGen UID: 934773).

SLC24A1

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).

SLC24A5

The SLC24A5 gene is associated with autosomal recessive oculocutaneous albinism (OCA) (MedGen UID: 811705).

SLC33A1

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).

SLC38A8

The SLC38A8 gene is associated with autosomal recessive foveal hypoplasia (MedGen UID: 814203).

SLC45A2

The SLC45A2 gene is associated with autosomal recessive oculocutaneous albinism type 4 (OCA4) (MedGen UID: 338324).

SLC4A4

The SLC4A4 gene is associated with autosomal recessive renal tubular acidosis (MedGen UID: 370883). Additionally, the SLC4A4 gene has preliminary evidence supporting a correlation with keratopathy (PMID: 29671668, 28754144).

SLC7A14

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).

SNRNP200

The SNRNP200 gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 332080) and autosomal recessive retinitis pigmentosa (PMID: 31260034).

SOX2

The SOX2 gene is associated with autosomal dominant syndromic microphthalmia (MedGen UID: 347232).

SOX3

The SOX3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked panhypopituitarism with intellectual disability (MedGen UID: 394771).

SPATA7

The SPATA7 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 346964), and retinitis pigmentosa (RP) (MedGen UID: 20551).

SPP2

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).

STRA6

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).

T
TAX1BP3

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).

TBC1D20

The TBC1D20 gene is associated with autosomal recessive Warburg micro syndrome and Martsolf syndrome (MedGen UID: 816595).

TCTN1

The TCTN1 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 481661).

TCTN2

The TCTN2 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TCTN3

The TCTN3 gene is associated with autosomal recessive Joubert syndrome (Medgen UID: 766672 ) and orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358).

TDRD7

The TDRD7 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 462654).

TEAD1

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).

TEK

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).

TFAP2A

The TFAP2A gene is associated with autosomal dominant branchiooculofacial syndrome (BOFS) (MedGen UID: 91261).

TIMM8A

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.

TIMP3

The TIMP3 gene is associated with autosomal dominant Sorsby fundus dystrophy (SFD) (MedGen UID: 338164).

TMED7

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).

TMEM107

The TMEM107 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome and related disorders (PMID: 26123494) and atypical oro-facio-digital syndrome (OFD) (PMID: 26518474).

TMEM126A

The TMEM126A gene is associated with autosomal recessive optic atrophy 7 (OPA7) (MedGen UID: 414112).

TMEM138

The TMEM138 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482536).

TMEM216

The TMEM216 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TMEM231

The TMEM231 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TMEM237

The TMEM237 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 482396).

TMEM67

The TMEM67 gene is associated with autosomal recessive Joubert syndrome and related disorders (JSRD) (MedGen UID: 798322).

TMEM70

The TMEM70 gene is associated with autosomal recessive ATP synthase deficiency (MedGen UID: 481329).

TOPORS

The TOPORS gene is associated with autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 372159).

TRAF3IP1

The TRAF3IP1 gene is associated with autosomal recessive Senior-Loken syndrome (MedGen UID: 899086). Additionally, the TRAF3IP1 gene has preliminary evidence supporting a correlation with autosomal recessive short-rib thoracic dysplasia (PMID: 29068549).

TRAPPC3

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).

TREX1

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).

TRIM32

The TRIM32 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 395295) and limb-girdle muscular dystrophy type 2H (LGMD2H) (MedGen UID: 78750).

TRNT1

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 (MedGen UID: 934743).

TRPM1

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).

TSPAN12

The TSPAN12 gene is associated with autosomal dominant familial exudative vitreoretinopathy (FEVR) (MedGen UID: 412872).

TTC21B

The TTC21B gene is associated with autosomal recessive nephronophthisis (MedGen UID: 462536) and asphyxiating thoracic dystrophy (MedGen UID: 462535).

TTC8

The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 347181) and nonsyndromic retinitis pigmentosa (MedGen UID: 462065).

TTLL5

The TTLL5 gene is associated with autosomal recessive cone-rod dystrophy (CRD) (MedGen UID: 862938).

TTPA

The TTPA gene is associated with autosomal recessive ataxia with vitamin E deficiency (AVED) (MedGen UID: 341248).

TUB

The TUB gene is associated with autosomal recessive retinal dystrophy (Pubmed ID: 24375934).

TUBGCP4

The TUBGCP4 gene is associated with autosomal recessive microcephaly with chorioretinopathy (MedGen UID: 902924).

TUBGCP6

The TUBGCP6 gene is associated with autosomal recessive microcephaly and chorioretinopathy (MedGen UID: 480111).

TULP1

The TULP1 gene is associated with autosomal recessive Leber congenital amaurosis (LCA) (MedGen UID: 462556) and retinitis pigmentosa (RP) (MedGen UID: 325056).

TYR

The TYR gene is associated with autosomal recessive oculocutaneous albinism type 1A (OCA1A) (MedGen UID: 1643910) and type 1B (OCA1B) (MedGen UID: 337712).

TYRP1

The TYRP1 gene is associated with autosomal recessive oculocutaneous albinism type 3 (MedGen UID: 87450).

U
UNC119

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).

UNC45B

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).

USH1C

The USH1C gene is associated with autosomal recessive Usher syndrome type 1C (MedGen UID: 292820) and nonsyndromic deafness (MedGen UID: 356389)

USH1G

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).

USH2A

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).

V
VAX1

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).

VCAN

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).

VIM

The VIM gene is associated with autosomal dominant congenital cataracts (MedGen UID: 811741).

VPS13B

The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).

VSX2

The VSX2 gene is associated with autosomal recessive Microphthalmia/Anophthalmia/Coloboma (MAC) Spectrum (MedGen UID: 400598).

W
WDPCP

The WDPCP gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 461477).

WDR19

The WDR19 gene is associated with autosomal recessive asphyxiating thoracic dystrophy (ATD) (MedGen UID: 482228), nephronophthisis (NPHP) (OMIM ID: 614377) and Senior-Loken syndrome (SLS) (MedGen UID: 905171).

WDR34

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).

WDR36

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).

WDR87

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).

WFS1

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).

WHRN

The WHRN gene is associated with autosomal recessive Usher syndrome type 2D (MedGen UID: 292821) and nonsyndromic deafness (MedGen UID: 339621).

WRN

The WRN gene is associated with autosomal recessive Werner syndrome (WS) (MedGen UID: 12147).

X
XYLT2

The XYLT2 gene is associated with autosomal recessive spondyloocular syndrome (MedGen UID: 900371).

Y
Z
ZNF408

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).

ZNF423

The ZNF423 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive nephronophthisis (PMID: 22863007).

ZNF513

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).