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 ABCC6 gene ABCC6 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum, MIM#264800 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000091262 ENSG00000091262 HGNC:57 ABHD12 gene ABHD12 Expert list;Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACBD5 gene ACBD5 Expert list;Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy (MIM#618863) Retinopathy;HP:0000488 23105016;27799409;33427402 False 3 50;50;0 0.219 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACO2 gene ACO2 Expert list;Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000100412 ENSG00000100412 HGNC:118 ADAMTS18 gene ADAMTS18 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal microcornea-myopic chorioretinal atrophy (MONDO:0014195) Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000140873 ENSG00000140873 HGNC:17110 AFG3L2 gene AFG3L2 Expert list;Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000141385 ENSG00000141385 HGNC:315 AHI1 gene AHI1 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIRE gene AIRE Expert Review Green;NHS GMS Syndromic Retinopathy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300" Retinopathy;HP:0000488 27606815 False 3 100;0;0 0.219 True ENSG00000160224 ENSG00000160224 HGNC:360 ALMS1 gene ALMS1 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPK1 gene ALPK1 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Retinopathy;HP:0000488 30967659;31939038 False 3 100;0;0 0.219 True ENSG00000073331 ENSG00000073331 HGNC:20917 ARL13B gene ARL13B Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 MIM#612291 Retinopathy;HP:0000488 18674751;30573647;25138100;29255182 False 3 100;0;0 0.219 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL3 gene ARL3 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35 MIM#618161 Retinopathy;HP:0000488 30269812;16565502 False 3 100;0;0 0.219 True ENSG00000138175 ENSG00000138175 HGNC:694 CC2D2A gene CC2D2A Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal COACH syndrome, MIM#216360;Joubert syndrome 9, MIM#612285;Meckel syndrome 6, MIM#612284;Retinitis pigmentosa 93, MIM# 619845 Retinopathy;HP:0000488 22241855;27081510;30267408 False 3 100;0;0 0.219 True ENSG00000048342 ENSG00000048342 HGNC:29253 CEP164 gene CEP164 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 4, 611134;Senior-Loken syndrome 6, 610189;Bardet-Biedl syndrome 14, 209900;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP76 gene CEP76 Expert Review Green;Other Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000101624 ENSG00000101624 HGNC:25727 CLCN2 gene CLCN2 Expert Review Green;Literature;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leukoencephalopathy with ataxia MIM# 615651" Retinopathy;HP:0000488 36964785 False 3 100;0;0 0.219 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLN3 gene CLN3 Expert Review Green;RetNet;Royal Melbourne Hospital;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Juvenile neuronal ceroid lipofuscinosis;Retinitis pigmentosa Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM #256731 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6 OMIM #601780 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 OMIM #600143 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000182372 ENSG00000182372 HGNC:2079 CNNM4 gene CNNM4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Jalili syndrome MIM#217080 Retinopathy;HP:0000488 30705057 False 3 100;0;0 0.219 True ENSG00000158158 ENSG00000158158 HGNC:105 COL11A1 gene COL11A1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type II, MIM#604841 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL2A1 gene COL2A1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome, type I Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000139219 ENSG00000139219 HGNC:2200 CSPP1 gene CSPP1 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Genetic Retinal Degeneration Conditions;Joubert syndrome 21 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTC1 gene CTC1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts MIM#612199 Retinopathy;HP:0000488 22267198 False 3 100;0;0 0.219 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTNNB1 gene CTNNB1 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with spastic diplegia and visual defects, MIM# 615075 Retinopathy;HP:0000488 33350591 False 3 100;0;0 0.219 True ENSG00000168036 ENSG00000168036 HGNC:2514 CTSD gene CTSD Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, OMIM #610127 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM #615362 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000174080 ENSG00000174080 HGNC:2531 ELOVL4 gene ELOVL4 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110;Stargardt disease 3, 600110;Ichthyosis, spastic quadriplegia, and mental retardation, 614457 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000118402 ENSG00000118402 HGNC:14415 ERCC6 gene ERCC6 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B MIM#133540 Retinopathy;HP:0000488 26204423 False 3 100;0;0 0.219 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Literature;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A MIM#216400 Retinopathy;HP:0000488 26204423 False 3 100;0;0 0.219 True ENSG00000049167 ENSG00000049167 HGNC:3439 EXOSC2 gene EXOSC2 Expert list;Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Retinopathy;HP:0000488 26843489;31628467 False 3 50;50;0 0.219 True ENSG00000130713 ENSG00000130713 HGNC:17097 FLVCR1 gene FLVCR1 Expert list;Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000162769 ENSG00000162769 HGNC:24682 GNPTG gene GNPTG Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma;Genetic Retinal Degeneration Conditions Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000090581 ENSG00000090581 HGNC:23026 GPATCH11 gene GPATCH11 Expert Review Green;Other Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related;Leber congenital amaurosis and developmental delay Retinopathy;HP:0000488 39572588 False 3 100;0;0 0.219 True ENSG00000152133 ENSG00000152133 HGNC:26768 GRN gene GRN Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM #614706 Retinopathy;HP:0000488 31855245;28404863;30922528 False 3 100;0;0 0.219 True ENSG00000030582 ENSG00000030582 HGNC:4601 HCCS gene HCCS Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders Other "Linear skin defects with multiple congenital anomalies 1, MIM# 309801" Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000004961 ENSG00000004961 HGNC:4837 HGSNAT gene HGSNAT Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 73 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000165102 ENSG00000165102 HGNC:26527 HMX1 gene HMX1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Oculoauricular syndrome, MIM#612109 Retinopathy;HP:0000488 18423520;25574057;33465110;32552830;31691317 False 3 100;0;0 0.219 True ENSG00000215612 ENSG00000215612 HGNC:5017 IFT140 gene IFT140 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 80 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000187535 ENSG00000187535 HGNC:29077 IKBKG gene IKBKG Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders Other "Incontinentia pigmenti, MIM# 308300" Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000073009 ENSG00000269335 HGNC:5961 INPP5E gene INPP5E Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000148384 ENSG00000148384 HGNC:21474 INTS11 gene INTS11 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Retinopathy;HP:0000488 37054711 False 3 100;0;0 0.219 True ENSG00000127054 ENSG00000127054 HGNC:26052 IQCB1 gene IQCB1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis;Senior-Loken syndrome 5, MIM# 609254;MONDO:0012225 Retinopathy;HP:0000488 15723066;21220633;20881296;21901789;33512896;33535056;29219953 False 3 100;0;0 0.219 True ENSG00000173226 ENSG00000173226 HGNC:28949 JAG1 gene JAG1 Expert Review Green;Literature;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 50;50;0 0.219 False ENSG00000101384 ENSG00000101384 HGNC:6188 KIF11 gene KIF11 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950;MONDO:0007918 Retinopathy;HP:0000488 22284827;25115524;25124931;27212378;32730767;31993640;25996076 False 3 100;0;0 0.219 True ENSG00000138160 ENSG00000138160 HGNC:6388 LAMA1 gene LAMA1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, MIM# 615960 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000101680 ENSG00000101680 HGNC:6481 LRP2 gene LRP2 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome MIM#222448 Retinopathy;HP:0000488 17632512 False 3 100;0;0 0.219 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRP5 gene LRP5 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Exudative vitreoretinopathy 4 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000162337 ENSG00000162337 HGNC:6697 MAN2B1 gene MAN2B1 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Mannosidosis, alpha-, types I and II, MIM# 248500" Retinopathy;HP:0000488 29859105 False 3 100;0;0 0.219 True ENSG00000104774 ENSG00000104774 HGNC:6826 MCOLN1 gene MCOLN1 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650;MONDO:0009653 Retinopathy;HP:0000488 17239335;25156245;35205297 False 3 100;0;0 0.219 True ENSG00000090674 ENSG00000090674 HGNC:13356 MED12 gene MED12 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders Other Hardikar syndrome, MIM# 301068 Retinopathy;HP:0000488 PMID: 33244166 False 3 100;0;0 0.219 True ENSG00000184634 ENSG00000184634 HGNC:11957 MFSD8 gene MFSD8 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 OMIM #610951 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000164073 ENSG00000164073 HGNC:28486 MKS1 gene MKS1 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblC type MIM#277400" Retinopathy;HP:0000488 28481040 False 3 100;0;0 0.219 True ENSG00000132763 ENSG00000132763 HGNC:24525 MORC2 gene MORC2 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Retinopathy;HP:0000488 32693025 False 3 50;0;50 0.219 True ENSG00000133422 ENSG00000133422 HGNC:23573 MSTO1 gene MSTO1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia MIM#617675 Retinopathy;HP:0000488 29339779;28544275 False 3 100;0;0 0.219 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTTP gene MTTP Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, MIM# 200100 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000138823 ENSG00000138823 HGNC:7467 NPHP1 gene NPHP1 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 50;0;50 0.219 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 23, 300424;Orofaciodigital syndrome I, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209;Joubert syndrome 10, 300804 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA3 gene OPA3 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Optic Atrophy Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000125741 ENSG00000125741 HGNC:8142 PANK2 gene PANK2 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal HARP syndrome;Neurodegeneration with brain iron accumulation 1 Retinopathy;HP:0000488 False 3 0;0;0 0.219 False ENSG00000125779 ENSG00000125779 HGNC:15894 PAX2 gene PAX2 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, MIM# 120330 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000075891 ENSG00000075891 HGNC:8616 PCYT1A gene PCYT1A Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Retinopathy;HP:0000488 24387990;24387991 False 3 100;0;0 0.219 True ENSG00000161217 ENSG00000161217 HGNC:8754 PEX1 gene PEX1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 1, 234580 Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX2 gene PEX2 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX7 gene PEX7 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000107537 ENSG00000107537 HGNC:8940 PLK4 gene PLK4 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Retinopathy;HP:0000488 25344692;25320347;27650967 False 3 100;0;0 0.219 True ENSG00000142731 ENSG00000142731 HGNC:11397 PNPLA6 gene PNPLA6 Expert list;Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000032444 ENSG00000032444 HGNC:16268 POC1B gene POC1B Expert list;Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, 615973 Retinopathy;HP:0000488 False 3 50;0;50 0.219 False ENSG00000139323 ENSG00000139323 HGNC:30836 POLA2 gene POLA2 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Telomere biology syndrome MONDO:0100137 Retinopathy;HP:0000488 39616267 False 3 100;0;0 0.219 True ENSG00000014138 ENSG00000014138 HGNC:30073 PPP2R3C gene PPP2R3C Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM # 618419 Retinopathy;HP:0000488 30893644;34714774;34750818 False 3 100;0;0 0.219 True ENSG00000092020 ENSG00000092020 HGNC:17485 PPT1 gene PPT1 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM#256730 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000131238 ENSG00000131238 HGNC:9325 PRPS1 gene PRPS1 Expert Review;Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000147224 ENSG00000147224 HGNC:9462 RIMS2 gene RIMS2 Expert Review;Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970 Retinopathy;HP:0000488 32470375 False 3 100;0;0 0.219 True ENSG00000176406 ENSG00000176406 HGNC:17283 RNU4ATAC gene RNU4ATAC Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Roifman syndrome, MIM# 616651;Lowry-Wood syndrome, MIM# 226960" Retinopathy;HP:0000488 2801768;29265708;30368667 False 3 100;0;0 0.219 True ENSG00000264229 ENSG00000264229 HGNC:34016 RPGRIP1L gene RPGRIP1L Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 5;Joubert syndrome 7;COACH syndrome Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000103494 ENSG00000103494 HGNC:29168 SCAPER gene SCAPER Expert list;Expert Review;Expert Review Green;Expert Review Red;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa MIM#618195 Retinopathy;HP:0000488 28794130 False 3 50;0;50 0.219 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCLT1 gene SCLT1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome;Senior-Loken syndrome Retinopathy;HP:0000488 32253632;30425282 False 3 67;33;0 0.219 True ENSG00000151466 ENSG00000151466 HGNC:26406 SDCCAG8 gene SDCCAG8 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326 Retinopathy;HP:0000488 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 0.219 True ENSG00000054282 ENSG00000054282 HGNC:10671 SLC25A46 gene SLC25A46 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000164209 ENSG00000164209 HGNC:25198 SRD5A3 gene SRD5A3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Iq MIM#612379" Retinopathy;HP:0000488 31638560 False 3 100;0;0 0.219 True ENSG00000128039 ENSG00000128039 HGNC:25812 STN1 gene STN1 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Retinopathy;HP:0000488 27432940;32627942 False 3 100;0;0 0.219 True ENSG00000107960 ENSG00000107960 HGNC:26200 STX3 gene STX3 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and microvillus inclusion disease, MIM#619446 Retinopathy;HP:0000488 24726755;29266534;25358429;29282386;30909251;29282386 False 3 100;0;0 0.219 True ENSG00000166900 ENSG00000166900 HGNC:11438 TIMM8A gene TIMM8A Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000126953 ENSG00000126953 HGNC:11817 TINF2 gene TINF2 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Revesz syndrome, 268130 Retinopathy;HP:0000488 18252230;21477109;28095086;28866069;29749240;30478948 False 3 100;0;0 0.219 True ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM216 gene TMEM216 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091 Retinopathy;HP:0000488 32687549;20512146 False 3 100;0;0 0.219 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, MIM#619562;retinal dystrophy;polycystic kidneys;occipital encephalocele Retinopathy;HP:0000488 33791682;25161209 False 3 100;0;0 0.219 True ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20 MIM#614970 Retinopathy;HP:0000488 23012439;27449316 False 3 100;0;0 0.219 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000155755 ENSG00000155755 HGNC:14432 TPP1 gene TPP1 Expert Review;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Retinopathy;HP:0000488 False 3 100;0;0 0.219 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRAF3IP1 gene TRAF3IP1 Expert list;Expert Review Green Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 Retinopathy;HP:0000488 26487268;18364699;21945076 False 3 100;0;0 0.219 True ENSG00000204104 ENSG00000204104 HGNC:17861 TREX1 gene TREX1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315 Retinopathy;HP:0000488 17660820 False 3 100;0;0 0.219 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959;Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Retinopathy;HP:0000488 26494905;28390992;27389523 False 3 100;0;0 0.219 True ENSG00000072756 ENSG00000072756 HGNC:17341 TTPA gene TTPA Expert list;Expert Review Green;NHS GMS;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBB4B gene TUBB4B Expert list;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leber congenital amaurosis with early-onset deafness MIM#617879;Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related" Retinopathy;HP:0000488 29198720 False 3 100;0;0 0.219 True ENSG00000188229 ENSG00000188229 HGNC:20771 TUBGCP4 gene TUBGCP4 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, MIM# 616335 Retinopathy;HP:0000488 25817018;32270730 False 3 100;0;0 0.219 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM# 251270 Retinopathy;HP:0000488 22279524;25344692 False 3 100;0;0 0.219 True ENSG00000128159 ENSG00000128159 HGNC:18127 VCAN gene VCAN Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wagner Syndrome Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000038427 ENSG00000038427 HGNC:2464 VPS13B gene VPS13B Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome MIM#216550 Retinopathy;HP:0000488 31580008;24334764 False 3 67;33;0 0.219 True ENSG00000132549 ENSG00000132549 HGNC:2183 WDPCP gene WDPCP Expert list;Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 50;0;50 0.219 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;RetNet;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000157796 ENSG00000157796 HGNC:18340 WFS1 gene WFS1 Expert Review Green;RetNet Syndromic Retinopathy Ophthalmological disorders Unknown Retinopathy;HP:0000488 False 3 100;0;0 0.219 False ENSG00000109501 ENSG00000109501 HGNC:12762 ZFYVE26 gene ZFYVE26 Expert Review;Expert Review Green;Royal Melbourne Hospital Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive MIM#270700 Retinopathy;HP:0000488 31385551;18394578;14409555 False 3 100;0;0 0.219 False ENSG00000072121 ENSG00000072121 HGNC:20761 ADIPOR1 gene ADIPOR1 Expert Review Amber;RetNet;Royal Melbourne Hospital Syndromic Retinopathy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal syndromic retinitis pigmentosa;non-syndromic autosomal dominant retinitis pigmentosa Retinopathy;HP:0000488 27655171;26662040 False 2 0;100;0 0.219 True ENSG00000159346 ENSG00000159346 HGNC:24040 AGPAT3 gene AGPAT3 Expert Review Amber;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Retinopathy;HP:0000488 37821758 False 2 100;0;0 0.219 True ENSG00000160216 ENSG00000160216 HGNC:326 ARMC9 gene ARMC9 Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30 MIM#617622 Retinopathy;HP:0000488 28625504 False 2 67;33;0 0.219 True ENSG00000135931 ENSG00000135931 HGNC:20730 HACE1 gene HACE1 Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756 Retinopathy;HP:0000488 26424145 False 2 50;50;0 0.219 True ENSG00000085382 ENSG00000085382 HGNC:21033 HBS1L gene HBS1L Expert Review Amber;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal disorder MONDO:0005283 Retinopathy;HP:0000488 38966981;24288412;30707697 False 2 0;100;0 0.219 True ENSG00000112339 ENSG00000112339 HGNC:4834 IFT81 gene IFT81 Expert Review Amber;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 Retinopathy;HP:0000488 28460050;26275418;27666822;32783357 False 2 0;100;0 0.219 True ENSG00000122970 ENSG00000122970 HGNC:14313 INVS gene INVS Expert Review Amber;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, MIM#602088 Retinopathy;HP:0000488 16522655 False 2 50;50;0 0.219 True ENSG00000119509 ENSG00000119509 HGNC:17870 LRRC32 gene LRRC32 Expert Review Amber;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Retinopathy;HP:0000488 30976112 False 2 0;100;0 0.219 True ENSG00000137507 ENSG00000137507 HGNC:4161 MFN2 gene MFN2 Expert Review Amber;RetNet Syndromic Retinopathy 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 Retinopathy;HP:0000488 30922813;28487236;21707411;22957060 False 2 0;100;0 0.219 True ENSG00000116688 ENSG00000116688 HGNC:16877 MPDZ gene MPDZ Expert Review Amber;Literature Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219 Retinopathy;HP:0000488 36594712;22159006;21862650 False 2 0;100;0 0.219 True ENSG00000107186 ENSG00000107186 HGNC:7208 PEX26 gene PEX26 Expert list;Expert Review Amber Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872;Peroxisome biogenesis disorder 7B MIM#614873 Retinopathy;HP:0000488 28944237 False 2 50;50;0 0.219 True ENSG00000215193 ENSG00000215193 HGNC:22965 POC5 gene POC5 Expert Review Amber;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa;short stature;microcephaly;recurrent glomerulonephritis Retinopathy;HP:0000488 29272404 False 2 0;100;0 0.219 True ENSG00000152359 ENSG00000152359 HGNC:26658 RDH11 gene RDH11 Expert Review Amber;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Retinopathy;HP:0000488 24916380;15634683;30731079;18326732;34988992 False 2 0;50;50 0.219 True ENSG00000072042 ENSG00000072042 HGNC:17964 TMEM107 gene TMEM107 Expert list;Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 29 MIM#617562;Orofaciodigital syndrome XVI MIM#617563 Retinopathy;HP:0000488 26595381 False 2 33;67;0 0.219 True ENSG00000179029 ENSG00000179029 HGNC:28128 TUB gene TUB Expert Review Amber;RetNet Syndromic Retinopathy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy and obesity, MIM# 616188 Retinopathy;HP:0000488 24375934;28852204 False 2 0;100;0 0.219 True ENSG00000166402 ENSG00000166402 HGNC:12406 SCA7 str ATXN7 Expert Review Green;Literature Syndromic Retinopathy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7 MIM#164500 Retinopathy;HP:0000488 8908515;29325606;20301433 False 3 100;0;0 0.219 True ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 27 37