Ophthalmology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

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 CHARGE Syndrome Test

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Genetic testing for CHD7, the gene associated with CHARGE syndrome. CHARGE syndrome is characterized by coloboma, heart defect, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies.

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
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
ADIPOR1
AGBL5
AGK

The AGK gene is associated with autosomal recessive Sengers syndrome (MedGen UID:395228). Additionally, the AGK gene has limited 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 4 (LCA4) (MedGen UID: 346808). Additionally, the AIPL1 gene has preliminary evidence supporting a correlation with retinitis pigmentosa (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) and retinitis pigmentosa (MedGen UID: 20551).

ARMC9
ARSG
ASRGL1
ATF6
ATOH7
B
B9D1

The B9D1 gene is associated with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673).

BBIP1
BBS1

The BBS1 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 422452).

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).

BBS4

The BBS4 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 156019). Additionally, the BBS4 gene has preliminary evidence supporting a correlation with autosomal recessive Leber congenital amaurosis (LCA) (PMID: 22219648).

BBS5

The BBS5 gene is associated with autosomal recessive Bardet-Biedl syndrome (MedGen UID: 431047).

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).

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: 370714).

BFSP2

The BFSP2 gene is associated with autosmal recessive congenital cataracts (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
CA4
CABP4
CACNA1F
CACNA2D4
CAPN5
CC2D2A

The CC2D2A gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 382940), Joubert syndrome with congenital hepatic fibrosis (COACH syndrome; MedGen UID: 387879), and Meckel-Gruber syndrome (MedGen UID: 382942).

CCT2
CDH23
CDH3
CDHR1
CEP164

The CEP164 gene is associated with autosomal recessive nephronophthisis 15 (NPHP15) (MedGen UID: 762112)

CEP19
CEP250
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
CEP83

The CEP83 gene is associated with autosomal recessive nephronophthisis 18 (NPHP18) (MedGen UID: 786419).

CERKL
CFAP410
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 currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant congenital cataracts (PMID:10682967, 10909854).

CIB2
CISD2
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
CLUAP1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
COL11A1
COL11A2
COL18A1
COL2A1
COL9A1
COL9A2
COL9A3
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 8 (MedGen UID: 462552) and retinitis pigmentosa 12 (MedGen UID: 374019).

CRX

The CRX gene is associated with autosomal dominant Leber congenital amaurosis 7 (MedGen UID: 462542) and cone-rod dystrophy 2 (MedGen UID: 441877).

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 dilated cardiomyopathy (DCM) (MedGen UID: 767563) and cataracts (MedGen UID: 462415). It is also associated with autosomal dominant and recessive myofibrillar myopathy 2 (MFM2) (MedGen UID: 324735).

CRYBA1

The CRYBA1 gene is associated with autosomal dominant congenital cataracts (MedGen UID: 318817).

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: 370592).

CRYBB2

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

CRYBB3

The CRYBB3 gene is associated with autosomal recessive congenital cataracts (MedGen UID: 341862). Additionally, the CRYBB3 gene has preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 23508780).

CRYGB

The CRYGB gene currently has no well-established disease association; however, there is limited 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: 348463). Additionally, the CRYGD gene has limited evidence supporting a correlation with congenital cataracts in association with microcornea (CCMC) (PMID: 17724170).

CRYGS

The CRYGS gene is associated with autosomal dominant congenital cataracts (MedGen UID: 101117).

CSPP1

The CSPP1 gene is associated with with autosomal recessive ciliopathies, including Meckel syndrome (MedGen UID: 481785) and Joubert syndrome (MedGen UID: 934673). A minority of individuals affected by CSPP1-related Joubert syndrome have also been reported with Jeune asphyxiating thoracic dystrophy (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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary diffuse gastric cancer (PMID: 23208944, 26182300).

CWC27
CYP1B1

The CYP1B1 gene is associated with autosomal recessive primary congenital glaucoma 3A (GLC3A), and juvenile- and adult-onset primary open-angle glaucoma (POAG) (MedGen UID: 42532). CYP1B1 is also associated with an increased risk for glaucoma that may be seen in combination with Peters anomaly (MedGen UID: 91031).

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
EPHA2

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

EXOSC2
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: 468423).

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 congenital cataracts (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 Klippel-Feil syndrome 1 (KFS1) (MedGen UID: 396196), autosomal recessive Leber congenital amaurosis 17 (LCA17) (MedGen UID: 811616), autosomal isolated microphthalmia 4 (MCOP4) (MedGen UID: 414346), and autosomal digenic microphthalmia with coloboma 6 (MCOPCB6) (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 1 (MedGen UID: 419026) and autosomal dominant cone rod dystrophy 6 (MedGen UID: 400963).

H
HARS

The HARS gene is associated with autosomal dominant Charcot-Marie-Tooth disease, type 2W (CMT2W) (MedGen UID: 851839).

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) and autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200). 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: 78608). Evidence to date suggests loss of function variants in HSF4 may be associated with autosomal recessive cataracts, while a dominant negative mechanism may be associated with autosomal dominant cataracts. The available evidence regarding these associations however, is limited.

I
IDH3A
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 short-rib thoracic dysplasia 10 with or without polydactyly (MedGen UID: 816505) and Bardet-Biedl syndrome (PMID: 26763875). Additionally, the IFT172 gene has preliminary evidence supporting a correlation with autosomal recessive non-syndromic retinitis pigmentosa (PMID: 25168386).

IFT27
IFT43
IFT80

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

IFT81
IMPDH1

The IMPDH1 gene is associated with autosomal dominant retinitis pigmentosa 10 (MedGen UID: 357247). Additionally, the IMPDH1 gene has preliminary evidence supporting a correlation with autosomal dominant Leber congenital amaurosis 11 (PMID: 16384941, 23661368).

IMPG1
IMPG2
INPP5E

The INPP5E gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 468502).

INVS

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

IQCB1

The IQCB1 gene is associated with autosomal recessive nephronophthisis and Leber congenital amaurosis, 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).

K
KCNJ13

The KCNJ13 gene is associated with autosomal dominant snowflake vitreoretinal degeneration (MedGen UID: 395476) and autosomal recessive Leber congenital amaurosis 16 (MedGen UID: 481692).

KCNV2
KIAA0586

The KIAA0586 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 900119) and short-rib thoracic dysplasia (SRTD) 14 (MedGen UID: 901479).

KIAA1549
KIF11
KIF7

The KIF7 gene is associated with autosomal recessive acrocallosal syndrome (MedGen UID: 162915), hydrolethalus syndrome (MedGen UID: 481529) and Joubert syndrome 12 (MedGen UID: 162915).

KIZ
KLHL7
L
LCA5

The LCA5 gene is associated with autosomal recessive Leber congenital amaurosis 5 (LCA5) (MedGen UID: 388031).

LIM2

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

LRAT

The LRAT gene is associated with autosomal recessive Leber congenital amaurosis 14 (MedGen UID: 442375), and early-onset retinitis pigmentosa (MedGen UID: 442376).

LRIT3
LRP2
LRP5
LZTFL1
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) and congenital cataracts (PMID: 17982426, 11772997).

MAK
MAPKAPK3
MERTK
MFN2

The MFN2 gene is associated with autosomal dominant and recessive Charcot-Marie-Tooth disease type 2A (CMT2A) (MedGen UID: 373098, 934692) and autosomal dominant hereditary motor and sensory neuropathy type VIA (HMSN6A (MedGen UID: 140747).

MFRP

The MFRP gene is associated with autosomal recessive isolated microphthalmia 5 (MCOP5) (MedGen UID: 410021).

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) and autosomal recessive McKusick-Kaufman syndrome (MedGen UID: 184924).

MKS1

The MKS1 gene is associated with autosomal recessive Meckel-Gruber syndrome (MedGen UID: 811346), and Joubert syndrome (PMID: 24886560).

MPDZ
MTTP

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

MYO7A
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 9 (LCA9) (MedGen UID: 325277).

NPHP1

The NPHP1 gene is associated with autosomal recessive nephronophthisis (MedGen UID: 343406).

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: 382215).

NPHP4

The NPHP4 gene is associated with autosomal recessive ciliopathies including nephronophthesis (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 (MedGen UID: 307142) and X-linked recessive OFD1-related Joubert syndrome (MedGen UID: 300804). Additionally, OFD1 has been reported in association with primary ciliary dyskinesia (PMID: 16783569).

OPA1
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
OTX2

The OTX2 gene is associated with autosomal dominant microphthalmia, anophthalmia, coloboma (MAC) spectrum (MedGen UID: 468558). Additionally, the OTX2 gene has preliminary evidence supporting a correlation with autosomal dominant pituitary hormone deficiency (MedGen UID: 462790; PMID: 18728160) and autosomal dominant Leber congenital amaurosis (LCA) (PMID: 23847139, 15846561).

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: 91031), aniridia (MedGen UID: 1941), keratitis (MedGen UID: 332039) and optic nerve malformations (OMIM: 120430). Additionally, the PAX6 gene has limited evidence supporting a correlation with autosomal dominant Gillespie syndrome (MedGen UID: 96563) and foveal hypoplasia (MedGen UID: 342639). PAX6 is also involved in the contiguous gene deletion syndrome WAGR (MedGen UID: 64512).

PCARE
PCDH15
PCYT1A
PDE6A
PDE6B
PDE6C
PDE6D

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

PDE6G
PDE6H
PDZD7
PEX1

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

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, MedGen UID: 766843, MedGen UID: 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, MedGen UID: 766873, MedGen UID: 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 (PMID: 26220973).

PEX6

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

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).

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 limited 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 and autosomal recessive congenital cataracts (MedGen UID: 351162; PMID: 16565358). Additionally, the PITX3 gene has preliminary evidence supporting a correlation with anterior segment mesenchymal dysgenesis (MedGen UID: 350766).

PLA2G5
PLK4
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
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2

The PRPH2 gene is associated with autosomal dominant and autosomal recessive PRPH2-related conditions including retinitis pigmentosa 7 (RP) (OMIM: 608133), Leber congenital amaurosis 18 (LCA) (OMIM: 608133), retinitis punctata albescens (RPA) (OMIM: 136880), macular dystrophy (MD) (OMIM: 608161), and central areolar choroidal dystrophy 2 (CACD) (OMIM: 613105).

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: 344000).

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 3 (MCOP3) (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 the RB1 gene 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).

RDH5
REEP6
RGR
RGS9
RGS9BP
RHO
RIMS1
RLBP1
ROM1
RP1
RP1L1
RP2
RPE65

The RPE65 gene is associated with autosomal recessive Leber congenital amaurosis 2 (MedGen UID: 348473), and retinitis pigmentosa 20 (MedGen UID: 462436).

RPGRIP1

The RPGRIP1 gene is associated with autosomal recessive Leber congenital amaurosis 6 (MedGen UID: 344245). Additionally, the RPGRIP1 gene has preliminary evidence supporting a correlation with autosomal recessive cone-rod dystrophy 13 (PMID: 26766544, 12920076, 23776498).

RPGRIP1L

The RPGRIP1L gene is associated with autosomal recessive ciliopathies including Joubert syndrome (MedGen UID: 369401), Meckel syndrome (MedGen UID: 409740), and COACH syndrome (MedGen UID: 387879).

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 SALL4-related 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
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
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).

SLC24A1
SLC45A2
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 3 (MedGen UID: 346964), and early-onset retinitis pigmentosa (MedGen UID: 414470).

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 ciliopathies including Joubert syndrome (MedGen UID: 833652) and Joubert syndrome related disorder Meckel syndrome (MedGen UID: 450186).

TCTN3

The TCTN3 gene is associated with autosomal recessive orofacial-digital syndrome IV (OFD4) (MedGen UID: 98358). Additionally, the TCTN3 gene has preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 25118024, 22883145).

TDRD7

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

TEAD1
TIMM8A
TIMP3
TMEM107
TMEM126A
TMEM138

The TMEM138 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Joubert syndrome (PMID: 22282472).

TMEM216

The TMEM216 gene is associated with autosomal recessive ciliopathies including Meckel syndrome (MedGen UID: 351059) and Joubert syndrome (MedGen UID: 334114).

TMEM231

The TMEM231 gene is associated with autosomal recessive Joubert syndrome (MedGen UID: 767149) and Meckel syndrome (MedGen UID: 811346).

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). Additionally, the TRIM32 gene has preliminary evidence supporting a correlation with autosomal recessive neurodegeneration with brain iron accumulation (PMID: 26586575).

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 12 (MedGen UID: 462536) and asphyxiating thoracic dystrophy 4 (MedGen UID: 462535).

TTC8

The TTC8 gene is associated with autosomal recessive Bardet-Biedl syndrome (BBS) (MedGen UID: 347181).

TTLL5
TTPA

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

TUB
TUBGCP4
TUBGCP6
TULP1

The TULP1 gene is associated with autosomal recessive Leber congenital amaurosis 15 (MedGen UID: 462556), and retinitis pigmentosa 14 (MedGen UID: 325056).

TYR
TYRP1
U
UNC119
USH1C
USH1G
USH2A
V
VAX1

The VAX1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive syndromic micropthalmia 11 (MCOPS11) (PMID: 22095910, 23463464).

VCAN
VIM

The VIM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant congenital cataracts (PMID: 19126778).

VPS13B

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

VSX2

The VSX2 gene is associated with autosomal recessive microphthalmia (MedGen UID: 351204).

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).

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 autosomal dominant congenital cataracts (MedGen UID: 811742).

WHRN
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