Ophthalmology

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.

293 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.

1 gene

Invitae Aniridia Test

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Genetic testing for PAX 6, the primary gene associated with aniridia and Gillespie syndrome.

up to 3 genes

Invitae Axenfeld-Rieger Panel

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Genetic testing of the FOXC1 and PITX2 genes, which are associated with Axenfeld-Rieger syndrome (ARS).

16 genes

Invitae Bardet-Biedl Syndrome Panel

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Genetic testing for 16 genes associated with Bardet-Biedl syndrome (BBS), a condition characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.

1 gene

Invitae Choroideremia Test

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Genetic testing for the CHM gene which is associated with choroideremia, a condition that is characterized by chorioretinal degeneration.

up to 38 genes

Invitae Congenital Cataracts Panel

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Genetic testing for up to 38 genes that are associated with the development of congenital and early-onset cataracts.

1 gene

Invitae Duane-Radial Ray Syndrome Test

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Genetic testing for SALL4, which is associated with Duane-Radial Ray syndrome (DRRS), a condition that is characterized by acro-renal-ocular anomalies.

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 Leber Congenital Amaurosis Panel

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Genetic testing for up to 21 genes that are associated with Leber congenital amaurosis (LCA), which is characterized by blindness or severe vision loss typically presenting in infancy.

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).

1 gene

Invitae Retinoblastoma Test

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Genetic testing of the RB1 gene for hereditary retinoblastoma; other cancer risks include pinealoma, osteosarcoma, soft tissue sarcomas, and melanoma.

8 genes

Invitae Senior-Loken Syndrome Panel

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Genetic testing for eight genes associated with Senior-Loken syndrome (SLSN), a condition characterized by a combination of childhood retinal and renal disease. Developmental delay may also be associated.

Gene
A
ABCA4
ABCC6
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
ADAMTS18
ADGRA3
ADGRV1

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

ADIPOR1
AGBL5
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).

AHR
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).

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).

ARHGEF18
ARL13B

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

ARL2BP
ARL3
ARL6

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

ARMC9
ARSG

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

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
ATF6
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 18 (BBS18) (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). Additionally, the BBS5 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa (PMID: 24154662, 28041643).

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

BEST1
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).

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) and tooth agenesis (PMID: 31128441).

C
C1QTNF5
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
CABP4
CACNA1F
CACNA2D4
CAPN5
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
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
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 (PMID: 24780881).

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
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).

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).

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
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).

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
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
COL11A1

The COL11A1 gene is associated with autosomal dominant Stickler syndrome (MedGen UID: 347615) and autosomal dominant Marshall syndrome (MRSHS) (MedGen UID: 82694), which is considered to be a phenotypic variant of Stickler syndrome by some experts (PMID: 10486316, 17236192). 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 otospondylomegaepiphyseal dysplasia (OSMED) (MedGen UID: 140925), non-syndromic hearing loss (MedGen UID: 400602) and fibrochondrogenesis (MedGen UID: 482758). Additionally the COL11A2 gene has preliminary evidence supporting a correlation with a spectrum of related autosomal dominant conditions including Stickler syndrome III (MedGen UID: 349293), Weissenbacher-Zweymüller syndrome (MedGen UID: 341234) and non-syndromic hearing loss (MedGen UID: 400917).

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).

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).

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).

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).

CYP4V2
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).

DHX38
DRAM2
DTHD1
E
EFEMP1
ELOVL4

The ELOVL4 gene is associated with autosomal dominant Stargardt macular degeneration (STGD) (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).

EPHA2

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

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).

EYS
F
FAM126A

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

FAM161A
FLVCR1
FOXC1

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

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
FSCN2
FYCO1

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

FZD4
G
GALK1

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

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).

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).

GNAT1
GNAT2
GNB3
GNPTG

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

GPR143
GPR179
GRM6
GUCA1A
GUCA1B
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).

HMX1
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
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) and short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive 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).

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).

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
IMPG2
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).

J
JAG1

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

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
KIAA0586

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

KIAA1549
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
KLHL7
L
LCA5

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

LIM2

The LIM2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive cataracts (PMID: 11917274).

LMX1B

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

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
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).

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).

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
MAPKAPK3
MERTK
MFN2

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

MFRP

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

MIP

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

MKKS

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

MKS1

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

MPDZ

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

MTTP

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

MYO7A

The MYO7A gene is associated with autosomal recessive Usher syndrome type 1 (MedGen UID: 292820) and non-syndromic deafness (MedGen UID: 325485), as well as autosomal dominant non-syndromic deafness (MedGen UID: 331297). Additionally, there is preliminary evidence supporting a correlation with Leber congenital amaurosis (PMID: 27208204, 21901789).

MYOC

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

N
NDP
NEK2
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).

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
NR2F1
NRL
NYX
O
OAT

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

OCA2
OCRL

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

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 deletion syndrome, and autosomal recessive Behr syndrome (MedGen UID: 66358). Additionally, the OPA1 gene has preliminary evidence supporting a correlation with autosomal recessive infantile mitochondrial encephalomyopathy hypertrophic cardiomyopathy with optic atrophy (MedGen UID: 903789).

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
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).

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
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
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
PDE6B
PDE6C
PDE6D

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

PDE6G
PDE6H
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 disorder (ZSD) (MedGen UID: 489910, 343498, 21958) and Heimler syndrome (MedGen UID: 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) and Heimler syndrome (MedGen UID: 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
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
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
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).

PRCD
PRDM13
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 dominant retinal macular dystrophy (MCDR) (MedGen UID: 137921). Additionally, the PROM1 gene has preliminary evidence supporting a correlation with autosomal dominant Stargardt disease (STGD) (MedGen UID: 355004).

PRPF3
PRPF31
PRPF4
PRPF6
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
RAB28
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
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).

RBP3
RBP4
RCBTB1
RD3

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

RDH11
RDH12

The RDH12 gene is associated with autosomal recessive Leber congenital amaurosis (MedGen UID: 382544). Additionally, the RDH12 gene has preliminary evidence supporting a correlation with autosomal dominant retinitis pigmentosa (PMID: 18779497).

RDH5
REEP6
RGR
RGS9
RGS9BP
RHO
RIMS1
RLBP1
ROM1
RP1
RP1L1
RP2
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).

RS1
RTN4IP1
S
SAG
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
SCLT1

The SCLT1 gene is associated with autosomal recessive orofaciodigital syndrome IX (OFD9) (PMID: 24285566, 27894351). Additionally, the SCLT1 gene has preliminary evidence supporting a correlation with autosomal recessive retinitis pigmentosa (PMID: 28005958) and autosomal recessive Senior-Loken (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
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).

SIX6

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

SLC24A1
SLC45A2
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
SNRNP200
SOX2

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

SPATA7

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

SPP2
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
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
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).

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
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
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).

TOPORS
TRAF3IP1
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
TSPAN12
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
TTPA

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

TUB
TUBGCP4
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
TYRP1
U
UNC119
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).

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).

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).

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).

X
Y
Z
ZNF408
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