Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCA4 gene ABCA4 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Macular Degeneration (Dominant);Stargardt disease 1, 248200;Macular degeneration, age-related, 2, 153800;Achromatopsia, Cone, and Cone-rod Dystrophy;Retinal dystrophy, early-onset severe, 248200;Stargardt Disease, Recessive;Retinitis pigmentosa 19, 601718;Cone-rod dystrophy 3, 604116;Macular Dystrophy/Degeneration/Stargardt Disease;Fundus flavimaculatus, 248200 Abnormal retinal morphology;HP:0000479 9054934;30480703;29847635;29971439;16103129;30643219 False 3 100;0;0 0.155 True ENSG00000198691 ENSG00000198691 HGNC:34 ABHD12 gene ABHD12 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal nonsyndromic retinitis pigmentosa;Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Abnormal retinal morphology;HP:0000479 24697911 False 3 0;0;0 0.155 False ENSG00000100997 ENSG00000100997 HGNC:15868 AGBL5 gene AGBL5 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 75 617023 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000084693 ENSG00000084693 HGNC:26147 AHI1 gene AHI1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal nonsyndromic retinitis pigmentosa;Joubert syndrome 17 Abnormal retinal morphology;HP:0000479 28442542 False 3 0;0;0 0.155 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIPL1 gene AIPL1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal AIPL1-related retinopathy (MONDO:0100438) Abnormal retinal morphology;HP:0000479 https://search.clinicalgenome.org/CCID:004084 False 3 100;0;0 0.155 True ENSG00000129221 ENSG00000129221 HGNC:359 AMACR gene AMACR Expert Review;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Alpha-methylacyl-CoA racemase deficiency, MIM# 614307" Abnormal retinal morphology;HP:0000479 21686617;20821052;11861706;10655068;15249642;23286897 False 3 100;0;0 0.155 True ENSG00000242110 ENSG00000242110 HGNC:451 ARHGEF18 gene ARHGEF18 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 78 617433 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000104880 ENSG00000104880 HGNC:17090 ARL2BP gene ARL2BP Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without situs inversus, 615434 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000102931 ENSG00000102931 HGNC:17146 BBS1 gene BBS1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS2 gene BBS2 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2;Retinitis pigmentosa 74 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000125124 ENSG00000125124 HGNC:967 BEST1 gene BEST1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1;Maculopathy, bull's-eye;Best Vitelliform Macular Dystrophy;Best macular dystrophy, 153700;Vitreoretinochoroidopathy, 193220;Retinitis pigmentosa;Retinitis Pigmentosa, Recessive;Bestrophinopathy, 611809;Vitelliform macular dystrophy, adult-onset, 608161 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000167995 ENSG00000167995 HGNC:12703 C2orf71 gene C2orf71 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 54 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Retinitis pigmentosa 64, 614500 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000156172 ENSG00000156172 HGNC:27232 CACNA1F gene CACNA1F Expert list;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26075273;25999675 False 3 100;0;0 0.155 False ENSG00000102001 ENSG00000102001 HGNC:1393 CDHR1 gene CDHR1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone-Rod Dystrophy, Recessive;Retinitis pigmentosa 65;Cone-rod dystrophy 15, 613660 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000148600 ENSG00000148600 HGNC:14550 CEP290 gene CEP290 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 6, 610189;Meckel syndrome 4, 611134;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188;Bardet-Biedl syndrome 14, 209900 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP83 gene CEP83 Expert Review;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID Abnormal retinal morphology;HP:0000479 24882706;33938610 False 3 100;0;0 0.155 True ENSG00000173588 ENSG00000173588 HGNC:17966 CERKL gene CERKL Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26, MIM# 608380 Abnormal retinal morphology;HP:0000479 14681825;24043777;28838317;27208204;28130426;33322828;32865075;32411380 False 3 100;0;0 0.155 True ENSG00000188452 ENSG00000188452 HGNC:21699 CFAP20 gene CFAP20 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa (MONDO:0019200), CFAP20-related Abnormal retinal morphology;HP:0000479 PMID:36329026 False 3 100;0;0 0.155 True ENSG00000070761 ENSG00000070761 HGNC:29523 CHM gene CHM Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinitis pigmentosa;Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000188419 ENSG00000188419 HGNC:1940 CLN3 gene CLN3 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Juvenile neuronal ceroid lipofuscinosis Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLRN1 gene CLRN1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 61, 614180 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000163646 ENSG00000163646 HGNC:12605 CNGA1 gene CNGA1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 49, 613756 Abnormal retinal morphology;HP:0000479 33633220;32705276;30652268;20301590;7479749 False 3 100;0;0 0.155 True ENSG00000198515 ENSG00000198515 HGNC:2148 CNGB1 gene CNGB1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 45, MIM#613767 Abnormal retinal morphology;HP:0000479 11379879;15557452;23661369;33847019 False 3 100;0;0 0.155 True ENSG00000070729 ENSG00000070729 HGNC:2151 COQ8B gene COQ8B Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200 Abnormal retinal morphology;HP:0000479 39226897;25967120 False 3 100;0;0 0.155 True ENSG00000123815 ENSG00000123815 HGNC:19041 CRB1 gene CRB1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pigmented paravenous chorioretinal atrophy, 172870;Leber congenital amaurosis 8, 613835;Retinitis pigmentosa-12, autosomal recessive, 600105 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000134376 ENSG00000134376 HGNC:2343 CWC27 gene CWC27 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, 250410 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000153015 ENSG00000153015 HGNC:10664 CYP4V2 gene CYP4V2 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Bietti crystalline corneoretinal dystrophy, 210370 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000145476 ENSG00000145476 HGNC:23198 DHDDS gene DHDDS Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1bb, MIM# 613861 Abnormal retinal morphology;HP:0000479 27343064;21295283;28130426;29276052;32483926;36046393;24078709;28005406;36046393;32272552;33077723 False 3 50;50;0 0.155 True ENSG00000117682 ENSG00000117682 HGNC:20603 DYNC2H1 gene DYNC2H1 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal non-syndromic retinitis pigmentosa Abnormal retinal morphology;HP:0000479 PMID: 32753734 False 3 100;0;0 0.155 True ENSG00000187240 ENSG00000187240 HGNC:2962 EYS gene EYS Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 25, 602772 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000188107 ENSG00000188107 HGNC:21555 FAM161A gene FAM161A Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, 606068;Retinitis pigmentosa 28 MONDO:0011630 Abnormal retinal morphology;HP:0000479 20705278;20705279;31236346;24833722 False 3 100;0;0 0.155 True ENSG00000170264 ENSG00000170264 HGNC:25808 FAM57B gene FAM57B Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 22, MIM# 619531;Maculopathy Abnormal retinal morphology;HP:0000479 PMID: 33077892 False 3 100;0;0 0.155 True ENSG00000149926 ENSG00000149926 HGNC:25295 FLVCR1 gene FLVCR1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000162769 ENSG00000162769 HGNC:24682 GUCY2D gene GUCY2D Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Achromatopsia, Cone, and Cone-rod Dystrophy;Cone-rod dystrophy 6 (AD);Leber congenital amaurosis 1, 204000;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000132518 ENSG00000132518 HGNC:4689 HGSNAT gene HGSNAT Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 73 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000165102 ENSG00000165102 HGNC:26527 IDH3A gene IDH3A Expert Review Green;NHS GMS Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MIM#619007;Leber congenital amaurosis Abnormal retinal morphology;HP:0000479 31012789;30478029;30058936;28412069 False 3 100;0;0 0.155 True ENSG00000166411 ENSG00000166411 HGNC:5384 IDH3B gene IDH3B Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000101365 ENSG00000101365 HGNC:5385 IFT140 gene IFT140 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 80, MIM# 617781 Abnormal retinal morphology;HP:0000479 26216056;26968735 False 3 100;0;0 0.155 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, MIM#616394 Abnormal retinal morphology;HP:0000479 25168386;29659833 False 3 100;0;0 0.155 True ENSG00000138002 ENSG00000138002 HGNC:30391 IMPG2 gene IMPG2 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 56, 613581;Maculopathy, IMPG2 - related;Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 32242237 False 3 100;0;0 0.155 True ENSG00000081148 ENSG00000081148 HGNC:18362 KCNJ13 gene KCNJ13 Expert list;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 16 MIM#614186 Abnormal retinal morphology;HP:0000479 25921210;21763485 False 3 100;0;0 0.155 True ENSG00000115474 ENSG00000115474 HGNC:6259 KIAA1549 gene KIAA1549 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 86 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000122778 ENSG00000122778 HGNC:22219 KIZ gene KIZ Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 69, MIM# 615780 Abnormal retinal morphology;HP:0000479 24680887;31556760;29057815 False 3 100;0;0 0.155 True ENSG00000088970 ENSG00000088970 HGNC:15865 LCA5 gene LCA5 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 5, 604537 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000135338 ENSG00000135338 HGNC:31923 LRAT gene LRAT Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis;Leber congenital amaurosis 14;Retinitis pigmentosa, juvenile;Retinal dystrophy, early-onset severe, 613341 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000121207 ENSG00000121207 HGNC:6685 MAK gene MAK Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 62, 614181 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000111837 ENSG00000111837 HGNC:6816 MERTK gene MERTK Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 38, MIM# 613862 Abnormal retinal morphology;HP:0000479 11062461;17301963;20300561;22180149 False 3 100;0;0 0.155 True ENSG00000153208 ENSG00000153208 HGNC:7027 MFRP gene MFRP Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000235718 ENSG00000235718 HGNC:18121 NEUROD1 gene NEUROD1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa;Retinopathy;Permanent neonatal diabetes Abnormal retinal morphology;HP:0000479 25477324;29521454;25684977 False 3 100;0;0 0.155 True ENSG00000162992 ENSG00000162992 HGNC:7762 NMNAT1 gene NMNAT1 Expert list;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leber congenital amaurosis 9 MIM#608553" Abnormal retinal morphology;HP:0000479 22842230;17132048 False 3 100;0;0 0.155 True ENSG00000173614 ENSG00000173614 HGNC:17877 NR2E3 gene NR2E3 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Enhanced S - cone syndrome (AR);Retinitis pigmentosa 37 (AD and AR) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000031544 ENSG00000278570 HGNC:7974 NRL gene NRL Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 27 (AD);Retinal degeneration, autosomal recessive, clumped pigment type (AR) Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000129535 ENSG00000129535 HGNC:8002 OAT gene OAT Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 True ENSG00000065154 ENSG00000065154 HGNC:8091 OFD1 gene OFD1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 23, 300424;Joubert syndrome 10, 300804;Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209 Abnormal retinal morphology;HP:0000479 28191358;22619378;29843741 False 3 0;0;0 0.155 False ENSG00000046651 ENSG00000046651 HGNC:2567 PDE6A gene PDE6A Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 43, 613810 Abnormal retinal morphology;HP:0000479 35033039;34926197;18849587;21039428;17110911;7493036 False 3 100;0;0 0.155 True ENSG00000132915 ENSG00000132915 HGNC:8785 PDE6B gene PDE6B Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 40;Night blindness, congenital stationary, autosomal dominant 2 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000133256 ENSG00000133256 HGNC:8786 PLA2G5 gene PLA2G5 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal [Fleck retina, familial benign], MIM# 228980 Abnormal retinal morphology;HP:0000479 22137173 False 3 100;0;0 0.155 True ENSG00000127472 ENSG00000127472 HGNC:9038 POMGNT1 gene POMGNT1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 76, MIM#617123 Abnormal retinal morphology;HP:0000479 27391550;26908613 False 3 100;0;0 0.155 True ENSG00000085998 ENSG00000085998 HGNC:19139 PQLC2 gene PQLC2 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, PQLC2-related Abnormal retinal morphology;HP:0000479 PMID: 35486108;and online publication GiM Open Feb 2024 False 3 100;0;0 0.155 True ENSG00000040487 ENSG00000040487 HGNC:26001 PRCD gene PRCD Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 36, MIM# 610599 Abnormal retinal morphology;HP:0000479 16938425;20507925;33087780;31640229;31189593;26497376 False 3 100;0;0 0.155 True ENSG00000214140 ENSG00000214140 HGNC:32528 PROM1 gene PROM1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Stargardt disease 4, 603786;Macular dystrophy, retinal, 2, 608051;Retinitis pigmentosa 41, 612095;Cone-rod dystrophy 12, 612657 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000007062 ENSG00000007062 HGNC:9454 RAX2 gene RAX2 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa-95 (RP95), MIM#620102 Abnormal retinal morphology;HP:0000479 30607024 False 3 100;0;0 0.155 True ENSG00000173976 ENSG00000173976 HGNC:18286 RBP3 gene RBP3 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66, 615233 Abnormal retinal morphology;HP:0000479 19074801;25766589;19357286;9614228 False 3 100;0;0 0.155 True ENSG00000107618 ENSG00000265203 HGNC:9921 RBP4 gene RBP4 Expert list;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, iris coloboma, and comedogenic acne syndrome MIM#615147 Abnormal retinal morphology;HP:0000479 23189188;9888420;32323592 False 3 100;0;0 0.155 True ENSG00000138207 ENSG00000138207 HGNC:9922 RCBTB1 gene RCBTB1 Expert list;Expert Review Green Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with or without extraocular anomalies MIM#617175 Abnormal retinal morphology;HP:0000479 27486781 False 3 100;0;0 0.155 True ENSG00000136144 ENSG00000136144 HGNC:18243 RD3 gene RD3 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 12, 610612 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13, 612712;Retinitis Pigmentosa, Recessive Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000139988 ENSG00000139988 HGNC:19977 REEP6 gene REEP6 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 77 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000115255 ENSG00000115255 HGNC:30078 RHO gene RHO Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 4, autosomal dominant or recessive, 613731;Retinitis punctata albescens;Congenital Stationary Night Blindness Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000163914 ENSG00000163914 HGNC:10012 RLBP1 gene RLBP1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis punctata albescens;Newfoundland rod - cone dystrophy;Fundus albipunctatus, 136880;Fundus albipunctatus;Bothnia retinal dystrophy Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000140522 ENSG00000140522 HGNC:10024 RP1 gene RP1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 1, 180100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000104237 ENSG00000104237 HGNC:10263 RP1L1 gene RP1L1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal retinitis pigmentosa;Occult macular dystrophy, 613587 Abnormal retinal morphology;HP:0000479 31833436;31236346;30025130 False 3 0;0;0 0.155 False ENSG00000183638 ENSG00000183638 HGNC:15946 RP2 gene RP2 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis Pigmentosa, X-linked;Retinitis pigmentosa 2, 312600 Abnormal retinal morphology;HP:0000479 9697692;10053026;10942419;11462235;12417528;8225316;26143542 False 3 100;0;0 0.155 True ENSG00000102218 ENSG00000102218 HGNC:10274 RPE65 gene RPE65 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 20;Leber congenital amaurosis 2, 204100 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cone-rod dystrophy, X-linked, 1, 304020;Macular degeneration, X-linked atrophic, 300834;Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455;Retinitis pigmentosa 3, 300029 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 6, 613826;Cone-rod dystrophy 13, 608194 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000092200 ENSG00000092200 HGNC:13436 SLC37A3 gene SLC37A3 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC37A3-related Abnormal retinal morphology;HP:0000479 28041643;35486108 False 3 100;0;0 0.155 True ENSG00000157800 ENSG00000157800 HGNC:20651 SPATA7 gene SPATA7 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Congenital Amaurosis;Retinitis pigmentosa, juvenile, autosomal recessive, 604232;Leber congenital amaurosis 3 Abnormal retinal morphology;HP:0000479 31908400;32799588 False 3 100;0;0 0.155 True ENSG00000042317 ENSG00000042317 HGNC:20423 TMEM216 gene TMEM216 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, TMEM216-related Abnormal retinal morphology;HP:0000479 39191256 False 3 100;0;0 0.155 True ENSG00000187049 ENSG00000187049 HGNC:25018 TRNT1 gene TRNT1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000072756 ENSG00000072756 HGNC:17341 TTC8 gene TTC8 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 51, 613464;Bardet-Biedl syndrome 8, 209900 Abnormal retinal morphology;HP:0000479 False 3 0;0;0 0.155 False ENSG00000165533 ENSG00000165533 HGNC:20087 TULP1 gene TULP1 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15, 613843;Retinitis pigmentosa 14, 600132 Abnormal retinal morphology;HP:0000479 False 3 100;0;0 0.155 False ENSG00000112041 ENSG00000112041 HGNC:12423 USH2A gene USH2A Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 39, 613809;Usher syndrome, type 2A, 276901 Abnormal retinal morphology;HP:0000479 12427073;20507924;17296898;19881469;18273898 False 3 100;0;0 0.155 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP45 gene USP45 Expert Review Green;Literature Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Lebers congenital amaurosis Abnormal retinal morphology;HP:0000479 30573563 False 3 100;0;0 0.155 True ENSG00000123552 ENSG00000123552 HGNC:20080 ZNF408 gene ZNF408 Expert Review Green;Royal Melbourne Hospital Retinitis pigmentosa_Autosomal Recessive/X-linked Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 72, MIM# 616469 Abnormal retinal morphology;HP:0000479 25882705;34259982;28095122 False 3 100;0;0 0.155 True ENSG00000175213 ENSG00000175213 HGNC:20041