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 AP3B2 gene AP3B2 Expert list;Expert Review Amber Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000 27889060 False 2 100;0;0 5.54 False ENSG00000103723 ENSG00000103723 HGNC:567 ATAD3A gene ATAD3A Expert Review Amber;London North GLH Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Harel-Yoon syndrome, OMIM:617183 27640307;28652416;28158749;31727539 False 2 50;0;50 5.54 False ENSG00000197785 ENSG00000197785 HGNC:25567 BLOC1S1 gene BLOC1S1 Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 2 100;0;0 5.54 False ENSG00000135441 ENSG00000135441 HGNC:4200 BORCS5 gene BORCS5 Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092 27435318;40385417;40621786 False 2 100;0;0 5.54 False ENSG00000165714 ENSG00000165714 HGNC:17950 CCT3 gene CCT3 Expert Review Amber;Literature Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034;neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 39480921 False 2 100;0;0 5.54 False ENSG00000163468 ENSG00000163468 HGNC:1616 FSD1L gene FSD1L Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 5.54 False ENSG00000106701 ENSG00000106701 HGNC:13753 INTS11 gene INTS11 Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 37054711;41810893 False 2 100;0;0 5.54 False ENSG00000127054 ENSG00000127054 HGNC:26052 LRRC8C gene LRRC8C Expert Review Amber;Literature Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TIMES syndrome, OMIM:621056 39623139 False 2 0;100;0 5.54 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171488 ENSG00000171488 HGNC:25075 MCAT gene MCAT Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal progressive autosomal recessive optic neuropathy;Hereditary optic neuropathy, MONDO:0020249 31915829;33918393 False 2 0;50;50 5.54 False ENSG00000100294 ENSG00000100294 HGNC:29622 MT-ND2 gene MT-ND2 Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL Leber hereditary optic neuropathy, MONDO:0010788 8680405;11479733;20454697;21145289 False 2 100;0;0 5.54 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL Leber hereditary optic neuropathy, MONDO:0010788;Leber optic atrophy and dystonia, MONDO:0010772 19458970;30199507;39923090 False 2 100;0;0 5.54 False ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4L gene MT-ND4L Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL Leber hereditary optic neuropathy, MONDO:0010788 11935318;22879922;29210930;36381806 False 2 100;0;0 5.54 False ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL Leber hereditary optic neuropathy, MONDO:0010788 12509858;12736867;27164671;38357617 False 2 100;0;0 5.54 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-TK gene MT-TK Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL MERRF syndrome, MONDO:0010790;optic atrophy, MONDO:0003608 1463006;8228033;23635963;33766967 False 2 100;0;0 5.54 False Other ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;optic atrophy, MONDO:0003608 7599199;7600089;8363452;8676159;9228247;9619647;22249460;37095452 False 2 100;0;0 5.54 False Other ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TS2 gene MT-TS2 Expert Review Amber;Literature Optic neuropathy Ophthalmology MITOCHONDRIAL 8432539;9135384;9792552;10090882;12086967 False 2 50;50;0 5.54 False Other ENSG00000210184 ENSG00000210184 HGNC:7498 NDUFA1 gene NDUFA1 Expert Review Amber;Literature;Research Optic neuropathy Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12, OMIM:301020;Optic neuropathy, HP:0001138 41234160 False 2 100;0;0 5.54 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Amber;Literature;Research Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, OMIM:618243;mitochondrial complex I deficiency, nuclear type 22, MONDO:0032626;Optic neuropathy, HP:0001138 31130284;36270260;41234160 False 2 100;0;0 5.54 False ENSG00000130414 ENSG00000130414 HGNC:7684 NRDC gene NRDC Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal microcephaly, MONDO:0001149;neurodevelopmental disorder, MONDO:0700092;Optic neuropathy, HP:0001138 41734767 False 2 100;0;0 5.54 False ENSG00000078618 ENSG00000078618 HGNC:7995 PDSS1 gene PDSS1 Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, OMIM:614651 33285023;17332895 False 2 0;100;0 5.54 False ENSG00000148459 ENSG00000148459 HGNC:17759 POLG gene POLG Expert Review Amber;London North GLH Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640;PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450 False 2 100;0;0 5.54 False ENSG00000140521 ENSG00000140521 HGNC:9179 PPIB gene PPIB Expert Review Amber;Other Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown optic atrophy, MONDO:0003608 21282188;41045073 False 2 0;100;0 5.54 False ENSG00000166794 ENSG00000166794 HGNC:9255 SDHA gene SDHA Expert Review Amber;London North GLH Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Cardiomyopathy, dilated, 1GG, OMIM:613642;Pheochromocytoma/paraganglioma syndrome 5, OMIM:614165 27683074;33471299 False 2 0;50;50 5.54 False ENSG00000073578 ENSG00000073578 HGNC:10680 SNF8 gene SNF8 Expert Review Amber;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;optic atrophy, MONDO:0003608 38423010 False 2 0;100;0 5.54 False ENSG00000159210 ENSG00000159210 HGNC:17028 TIMM8A gene TIMM8A Emory Genetics Laboratory;Expert Review Amber;London North GLH Optic neuropathy Ophthalmology X-LINKED: hemizygous mutation in males, biallelic mutations in females deafness-dystonia-optic neuropathy syndrome;Mohr-Tranebjaerg syndrome 20301395;22736418 False 2 100;0;0 5.54 False ENSG00000126953 ENSG00000126953 HGNC:11817