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 AUH gene AUH Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950 Optic atrophy;HP:0000648 20855850;30143805;31765440;1594352 False 2 0;100;0 2.0 True ENSG00000148090 ENSG00000148090 HGNC:890 CCDC88A gene CCDC88A Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome-like, MIM#617507 Optic atrophy;HP:0000648 26917597;30392057;28899015 False 2 0;100;0 2.0 True ENSG00000115355 ENSG00000115355 HGNC:25523 MCAT gene MCAT Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 15, MIM# 620583 Optic atrophy;HP:0000648 33918393;31915829 False 2 0;50;50 2.0 True ENSG00000100294 ENSG00000100294 HGNC:29622 MT-ND4L gene MT-ND4L Expert list;Expert Review Amber Optic Atrophy Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-ND4L-related Optic atrophy;HP:0000648 8680405;11935318;17003408;22879922;24568867 False 2 0;100;0 2.0 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-TQ gene MT-TQ Expert list;Expert Review Amber Optic Atrophy Ophthalmological disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TQ-related Optic atrophy;HP:0000648 11171912;10996779;17003408;11335700 False 2 0;100;0 2.0 True ENSG00000210107 ENSG00000210107 HGNC:7495 NDUFS1 gene NDUFS1 Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, 618226 Optic atrophy;HP:0000648 11349233;24952175;22200994;21203893 False 2 0;100;0 2.0 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS3 gene NDUFS3 Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Optic atrophy;HP:0000648 22499348;30140060;14729820;33097395 False 2 0;100;0 2.0 True ENSG00000213619 ENSG00000213619 HGNC:7710 PDSS1 gene PDSS1 Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 2, MIM# 614651" Optic atrophy;HP:0000648 33285023 False 2 0;100;0 2.0 True ENSG00000148459 ENSG00000148459 HGNC:17759 PLAA gene PLAA Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527) Optic atrophy;HP:0000648 28413018;28007986 False 2 0;100;0 2.0 True ENSG00000137055 ENSG00000137055 HGNC:9043 POLG gene POLG Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy 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 Optic atrophy;HP:0000648 31613174;20142534;30395865 False 2 0;100;0 2.0 True ENSG00000140521 ENSG00000140521 HGNC:9179 PPIB gene PPIB Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy (MONDO:0003608), PPIB-related Optic atrophy;HP:0000648 41045073 False 2 0;100;0 2.0 True ENSG00000166794 ENSG00000166794 HGNC:9255 SNF8 gene SNF8 Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Optic atrophy;HP:0000648 38423010 False 2 0;100;0 2.0 True ENSG00000159210 ENSG00000159210 HGNC:17028 SUPV3L1 gene SUPV3L1 Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Optic atrophy;HP:0000648 39596606;35023579 False 2 0;100;0 2.0 True ENSG00000156502 ENSG00000156502 HGNC:11471 TBCD gene TBCD Expert Review;Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Optic atrophy;HP:0000648 27666370;27666374 False 2 0;100;0 2.0 True ENSG00000141556 ENSG00000141556 HGNC:11581 TIMM50 gene TIMM50 Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX (MIM#617698) Optic atrophy;HP:0000648 27573165;31058414 False 2 100;0;0 2.0 True ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Amber;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome (MIM#304700) Optic atrophy;HP:0000648 31903733;30634948;22736418 False 2 0;100;0 2.0 True ENSG00000126953 ENSG00000126953 HGNC:11817 ZDHHC16 gene ZDHHC16 Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Optic atrophy;HP:0000648 39313616 False 2 0;100;0 2.0 True ENSG00000171307 ENSG00000171307 HGNC:20714