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 ACTG1 gene ACTG1 Expert Review Amber;Literature;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa MONDO:0019200, ACTG1-related Abnormal retinal morphology;HP:0000479 PMID: 28000701, PMID 34448047, PMID 39734360 False 2 0;100;0 6.480 True Other ENSG00000184009 ENSG00000184009 HGNC:144 ACTG1 gene ACTG1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa MONDO:0019200, ACTG1-related Abnormal retinal morphology;HP:0000479 PMID: 28000701, PMID 34448047, PMID 39734360 False 2 0;100;0 6.480 True Other ENSG00000184009 ENSG00000184009 HGNC:144 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26662040;25736573;30254279;27655171 False 2 0;100;0 6.480 True ENSG00000159346 ENSG00000159346 HGNC:24040 ADIPOR1 gene ADIPOR1 Expert Review Amber;Expert Review Amber;RetNet;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 27655171;26662040 False 2 0;100;0 6.480 True ENSG00000159346 ENSG00000159346 HGNC:24040 ADIPOR1 gene ADIPOR1 Expert Review Amber;Royal Melbourne Hospital;Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Abnormal retinal morphology;HP:0000479 26662040;25736573;30254279;27655171 False 2 0;100;0 6.480 False ENSG00000159346 ENSG00000159346 HGNC:24040 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Abnormal retinal morphology;HP:0000479 37821758 False 2 100;0;0 6.480 True ENSG00000160216 ENSG00000160216 HGNC:326 AHR gene AHR Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 85 Abnormal retinal morphology;HP:0000479 29726989 False 2 0;100;0 6.480 True ENSG00000106546 ENSG00000106546 HGNC:348 ARL3 gene ARL3 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 83;Joubert syndrome 35 Abnormal retinal morphology;HP:0000479 26936825;16565502;26964041;26814127;30932721;30269812 False 2 0;100;0 6.480 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL3 gene ARL3 Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 83;Joubert syndrome 35 Abnormal retinal morphology;HP:0000479 26936825;16565502;26964041;26814127;30932721;30269812 False 2 0;100;0 6.480 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 55, 613575;Bardet-Biedl syndrome 3, 209900 Abnormal retinal morphology;HP:0000479 False 2 0;100;0 6.480 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Amber;Expert list;Expert Review Green;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30 MIM#617622 Abnormal retinal morphology;HP:0000479 28625504 False 2 67;33;0 6.480 True ENSG00000135931 ENSG00000135931 HGNC:20730 AUH gene AUH Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950 Abnormal retinal morphology;HP:0000479 20855850;30143805;31765440;1594352 False 2 0;100;0 6.480 True ENSG00000148090 ENSG00000148090 HGNC:890 C8orf37 gene C8orf37 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406 Abnormal retinal morphology;HP:0000479 27008867;26854863 False 2 0;100;0 6.480 True ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC88A gene CCDC88A Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, MIM#617507 Abnormal retinal morphology;HP:0000479 26917597;30392057;28899015 False 2 0;100;0 6.480 True ENSG00000115355 ENSG00000115355 HGNC:25523 CEP162 gene CEP162 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa MONDO:0019200, CEP162-related Abnormal retinal morphology;HP:0000479 36862503 False 2 0;100;0 6.480 True ENSG00000135315 ENSG00000135315 HGNC:21107 CLCC1 gene CLCC1 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 32, MIM# 609913 Abnormal retinal morphology;HP:0000479 30157172 False 2 0;100;0 6.480 True ENSG00000121940 ENSG00000121940 HGNC:29675 COL9A3 gene COL9A3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peripheral vitreoretinal degeneration and retinal detachment, AD Abnormal retinal morphology;HP:0000479 33633367 False 2 50;50;0 6.480 True ENSG00000092758 ENSG00000092758 HGNC:2219 CRB2 gene CRB2 Expert Review Amber;Expert Review Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa Abnormal retinal morphology;HP:0000479 30593785;31438467;33575434;30239717 False 2 0;100;0 6.480 True ENSG00000148204 ENSG00000148204 HGNC:18688 CREB3 gene CREB3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal degeneration, MONDO:0004580, CREB3-related Abnormal retinal morphology;HP:0000479 PMID: 40674075 False 2 50;50;0 6.480 True ENSG00000107175 ENSG00000107175 HGNC:2347 CREB3 gene CREB3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal degeneration, MONDO:0004580, CREB3-related Abnormal retinal morphology;HP:0000479 PMID: 40674075 False 2 50;50;0 6.480 True ENSG00000107175 ENSG00000107175 HGNC:2347 DHX38 gene DHX38 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 84, MIM#618220 Abnormal retinal morphology;HP:0000479 24737827;30208423;35719279 False 2 50;50;0 6.480 True ENSG00000140829 ENSG00000140829 HGNC:17211 EGFLAM gene EGFLAM Literature;Expert Review Amber;Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Congenital stationary night blindness MONDO:0016293, EGFLAM-related Abnormal retinal morphology;HP:0000479 41343198;18641643 False 2 0;100;0 6.480 False ENSG00000164318 ENSG00000164318 HGNC:26810 EMC1 gene EMC1 Royal Melbourne Hospital;Expert Review Amber Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa;Cerebellar atrophy, visual impairment, and psychomotor retardation Abnormal retinal morphology;HP:0000479 29271071;23105016 False 2 0;100;0 6.480 False ENSG00000127463 ENSG00000127463 HGNC:28957 EXOSC2 gene EXOSC2 Expert Review Amber;Expert list;RetNet;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Abnormal retinal morphology;HP:0000479 26843489;31628467;36344539;36069504 False 2 50;50;0 6.480 True ENSG00000130713 ENSG00000130713 HGNC:17097 GDF6 gene GDF6 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 17 MIM#615360 Abnormal retinal morphology;HP:0000479 23307924 False 2 0;100;0 6.480 True ENSG00000156466 ENSG00000156466 HGNC:4221 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Abnormal retinal morphology;HP:0000479 15452722;26161267 False 2 0;100;0 6.480 True ENSG00000112599 ENSG00000112599 HGNC:4679 GUCA1B gene GUCA1B Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Abnormal retinal morphology;HP:0000479 15452722;26161267 False 2 0;100;0 6.480 True ENSG00000112599 ENSG00000112599 HGNC:4679 GUCA1B gene GUCA1B Royal Melbourne Hospital;Expert Review Amber;Expert Review Amber Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 48, MIM#613827 Abnormal retinal morphology;HP:0000479 15452722;26161267 False 2 0;100;0 6.480 False ENSG00000112599 ENSG00000112599 HGNC:4679 HACE1 gene HACE1 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Abnormal retinal morphology;HP:0000479 26424145 False 2 50;50;0 6.480 True ENSG00000085382 ENSG00000085382 HGNC:21033 HBS1L gene HBS1L Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal disorder MONDO:0005283 Abnormal retinal morphology;HP:0000479 38966981;24288412;30707697 False 2 0;100;0 6.480 True ENSG00000112339 ENSG00000112339 HGNC:4834 IFT57 gene IFT57 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Bield syndrome;ciliopathy - MONDO:0005308 Abnormal retinal morphology;HP:0000479 PMID:40273360 False 2 0;100;0 6.480 True ENSG00000114446 ENSG00000114446 HGNC:17367 IFT57 gene IFT57 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Bield syndrome;ciliopathy - MONDO:0005308 Abnormal retinal morphology;HP:0000479 PMID:40273360 False 2 0;100;0 6.480 True ENSG00000114446 ENSG00000114446 HGNC:17367 IFT81 gene IFT81 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Abnormal retinal morphology;HP:0000479 28460050;26275418;27666822;32783357 False 2 0;100;0 6.480 True ENSG00000122970 ENSG00000122970 HGNC:14313 IMPG1 gene IMPG1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Retinitis pigmentosa, MONDO:0019200;Retinitis pigmentosa 91, MIM# 153870" Abnormal retinal morphology;HP:0000479 32817297 False 2 0;100;0 6.480 True ENSG00000112706 ENSG00000112706 HGNC:6055 INVS gene INVS Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, MIM#602088 Abnormal retinal morphology;HP:0000479 16522655 False 2 50;50;0 6.480 True ENSG00000119509 ENSG00000119509 HGNC:17870 IRX5 gene IRX5 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cone dystrophy, MONDO:0000455 Abnormal retinal morphology;HP:0000479 33891002;28041643;32045705;22581230;17230486 False 2 0;100;0 6.480 True Other ENSG00000176842 ENSG00000176842 HGNC:14361 IRX6 gene IRX6 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cone dystrophy, MONDO:0000455 Abnormal retinal morphology;HP:0000479 33891002 False 2 0;100;0 6.480 True Other ENSG00000159387 ENSG00000159387 HGNC:14675 JAG1 gene JAG1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial exudative vitreoretinopathy Abnormal retinal morphology;HP:0000479 31273345 False 2 0;100;0 6.480 True ENSG00000101384 ENSG00000101384 HGNC:6188 KCNJ13 gene KCNJ13 Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Snowflake vitreoretinal degeneration, MIM# 193230 Abnormal retinal morphology;HP:0000479 18179896;23255580;31647904 False 2 0;100;0 6.480 True ENSG00000115474 ENSG00000115474 HGNC:6259 LRP6 gene LRP6 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Exudative vitreoretinopathy 8, MIM# 621268" Abnormal retinal morphology;HP:0000479 34896607 False 2 0;100;0 6.480 True ENSG00000070018 ENSG00000070018 HGNC:6698 LRRC32 gene LRRC32 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Abnormal retinal morphology;HP:0000479 30976112;41041957 False 2 0;100;0 6.480 True ENSG00000137507 ENSG00000137507 HGNC:4161 MCAT gene MCAT Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 15, MIM# 620583 Abnormal retinal morphology;HP:0000479 33918393;31915829 False 2 0;50;50 6.480 True ENSG00000100294 ENSG00000100294 HGNC:29622 MFN2 gene MFN2 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087 Abnormal retinal morphology;HP:0000479 30922813;28487236;21707411;22957060 False 2 0;100;0 6.480 True ENSG00000116688 ENSG00000116688 HGNC:16877 MPDZ gene MPDZ Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Abnormal retinal morphology;HP:0000479 36594712;22159006;21862650 False 2 0;100;0 6.480 True ENSG00000107186 ENSG00000107186 HGNC:7208 MT-ND4L gene MT-ND4L Expert Review Amber;Expert list;Expert list Retinal Disorders Superpanel Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-ND4L-related Abnormal retinal morphology;HP:0000479 8680405;11935318;17003408;22879922;24568867 False 2 0;100;0 6.480 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-TC gene MT-TC Expert Review Amber;Expert list;Expert list Retinal Disorders Superpanel Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related Abnormal retinal morphology;HP:0000479 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 6.480 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TQ gene MT-TQ Expert Review Amber;Expert list;Expert list Retinal Disorders Superpanel Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TQ-related Abnormal retinal morphology;HP:0000479 11171912;10996779;17003408;11335700 False 2 0;100;0 6.480 True ENSG00000210107 ENSG00000210107 HGNC:7495 MVK gene MVK Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria;Hyper-IgD syndrome Abnormal retinal morphology;HP:0000479 False 2 0;100;0 6.480 False ENSG00000110921 ENSG00000110921 HGNC:7530 NDUFS1 gene NDUFS1 Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, 618226 Abnormal retinal morphology;HP:0000479 11349233;24952175;22200994;21203893 False 2 0;100;0 6.480 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS3 gene NDUFS3 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Abnormal retinal morphology;HP:0000479 22499348;30140060;14729820;33097395 False 2 0;100;0 6.480 True ENSG00000213619 ENSG00000213619 HGNC:7710 NEK2 gene NEK2 Royal Melbourne Hospital;Expert Review Amber Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 67, 615565 Abnormal retinal morphology;HP:0000479 24043777 False 2 0;100;0 6.480 False ENSG00000117650 ENSG00000117650 HGNC:7745 PDE6G gene PDE6G Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 57, MIM#613582 Abnormal retinal morphology;HP:0000479 20655036 False 2 0;100;0 6.480 True ENSG00000185527 ENSG00000185527 HGNC:8789 PDSS1 gene PDSS1 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 2, MIM# 614651" Abnormal retinal morphology;HP:0000479 33285023 False 2 0;100;0 6.480 True ENSG00000148459 ENSG00000148459 HGNC:17759 PDZD7 gene PDZD7 Expert Review Amber;Royal Melbourne Hospital;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 Abnormal retinal morphology;HP:0000479 20440071;19028668;26416264;26849169;27068579;26445815;28173822;24334608 False 2 0;100;0 6.480 True ENSG00000186862 ENSG00000186862 HGNC:26257 PEX26 gene PEX26 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872;Peroxisome biogenesis disorder 7B MIM#614873 Abnormal retinal morphology;HP:0000479 28944237 False 2 50;50;0 6.480 True ENSG00000215193 ENSG00000215193 HGNC:22965 PLAA gene PLAA Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527) Abnormal retinal morphology;HP:0000479 28413018;28007986 False 2 0;100;0 6.480 True ENSG00000137055 ENSG00000137055 HGNC:9043 POC5 gene POC5 Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa;short stature;microcephaly;recurrent glomerulonephritis Abnormal retinal morphology;HP:0000479 29272404 False 2 0;100;0 6.480 True ENSG00000152359 ENSG00000152359 HGNC:26658 POLG gene POLG Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459;Progressive external ophthalmoplegia, autosomal recessive 1 258450 Abnormal retinal morphology;HP:0000479 31613174;20142534;30395865 False 2 0;100;0 6.480 True ENSG00000140521 ENSG00000140521 HGNC:9179 PPIB gene PPIB Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy (MONDO:0003608), PPIB-related Abnormal retinal morphology;HP:0000479 41045073 False 2 0;100;0 6.480 True ENSG00000166794 ENSG00000166794 HGNC:9255 PRPF6 gene PRPF6 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa 60, MIM# 613983 Abnormal retinal morphology;HP:0000479 21549338;32335390 False 2 0;100;0 6.480 True ENSG00000101161 ENSG00000101161 HGNC:15860 RBP3 gene RBP3 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66, 615233 Abnormal retinal morphology;HP:0000479 25766589;19074801 False 2 0;100;0 6.480 True ENSG00000107618 ENSG00000265203 HGNC:9921 SAG gene SAG Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinitis pigmentosa 47, autosomal recessive MIM# 613758;Retinitis pigmentosa 96, autosomal dominant, MIM# 620228 Abnormal retinal morphology;HP:0000479 28549094;33047631;28549094;33047631;9565049;31257036 False 2 0;100;0 6.480 True ENSG00000130561 ENSG00000130561 HGNC:10521 SEMA4A gene SEMA4A Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283 Abnormal retinal morphology;HP:0000479 30679166;16199541;28805479;23360997;15277503 False 2 0;100;0 6.480 True ENSG00000196189 ENSG00000196189 HGNC:10729 SEMA4A gene SEMA4A Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 Abnormal retinal morphology;HP:0000479 16199541;28805479;23360997;15277503 False 2 0;100;0 6.480 True ENSG00000196189 ENSG00000196189 HGNC:10729 SLC29A3 gene SLC29A3 Expert Review Amber;Literature;Expert list Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome - MIM#602782 Abnormal retinal morphology;HP:0000479 False 2 50;50;0 6.480 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC4A7 gene SLC4A7 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, MONDO:0019200, SLC4A7-related Abnormal retinal morphology;HP:0000479 PMID: 35486108, 32594822 False 2 0;100;0 6.480 True ENSG00000033867 ENSG00000033867 HGNC:11033 SNF8 gene SNF8 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Abnormal retinal morphology;HP:0000479 38423010 False 2 0;100;0 6.480 True ENSG00000159210 ENSG00000159210 HGNC:17028 SUPV3L1 gene SUPV3L1 Expert Review Amber;Literature;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Abnormal retinal morphology;HP:0000479 39596606;35023579 False 2 0;100;0 6.480 True ENSG00000156502 ENSG00000156502 HGNC:11471 TBCD gene TBCD Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Abnormal retinal morphology;HP:0000479 27666370;27666374 False 2 0;100;0 6.480 True ENSG00000141556 ENSG00000141556 HGNC:11581 TEAD1 gene TEAD1 Expert Review Amber;Expert list Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sveinsson chorioretinal atrophy MIM#108985 Abnormal retinal morphology;HP:0000479 15016762;17689488;30903741;26091538 False 2 0;100;0 6.480 True ENSG00000187079 ENSG00000187079 HGNC:11714 TIMM50 gene TIMM50 Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX (MIM#617698) Abnormal retinal morphology;HP:0000479 27573165;31058414 False 2 100;0;0 6.480 True ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Amber;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome (MIM#304700) Abnormal retinal morphology;HP:0000479 31903733;30634948;22736418 False 2 0;100;0 6.480 True ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM107 gene TMEM107 Expert Review Amber;Expert list;Expert Review Green;Expert Review;Victorian Clinical Genetics Services Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 29 MIM#617562;Orofaciodigital syndrome XVI MIM#617563 Abnormal retinal morphology;HP:0000479 26595381 False 2 33;67;0 6.480 True ENSG00000179029 ENSG00000179029 HGNC:28128 TRIM49 gene TRIM49 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa MONDO:0019200 Abnormal retinal morphology;HP:0000479 40956390 False 2 0;100;0 6.480 True ENSG00000168930 ENSG00000168930 HGNC:13431 TUB gene TUB Expert Review Amber;RetNet Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and obesity, MIM# 616188 Abnormal retinal morphology;HP:0000479 24375934;28852204 False 2 0;100;0 6.480 True ENSG00000166402 ENSG00000166402 HGNC:12406 UNC119 gene UNC119 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cone-rod dystrophy 24, MIM# 620342 Abnormal retinal morphology;HP:0000479 30679166;11006213;23563732;27079236;41107067 False 2 50;50;0 6.480 True ENSG00000109103 ENSG00000109103 HGNC:12565 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Abnormal retinal morphology;HP:0000479 39313616 False 2 0;100;0 6.480 True ENSG00000171307 ENSG00000171307 HGNC:20714 ZNF513 gene ZNF513 Expert Review Amber;Royal Melbourne Hospital Retinal Disorders Superpanel Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 58, 613617 Abnormal retinal morphology;HP:0000479 False 2 0;100;0 6.480 False ENSG00000163795 ENSG00000163795 HGNC:26498