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 ACO2 gene ACO2 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 9, MIM# 616289;Infantile cerebellar-retinal degeneration, MIM# 614559 Optic atrophy;HP:0000648 25351951;22405087;34056600 False 3 100;0;0 1.45 True ENSG00000100412 ENSG00000100412 HGNC:118 AFG3L2 gene AFG3L2 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Optic atrophy 12, MIM# 618977" Optic atrophy;HP:0000648 29181157;26539208;30252181;30389403;32219868;32600459;32548275 False 3 100;0;0 1.45 True ENSG00000141385 ENSG00000141385 HGNC:315 ANTXR1 gene ANTXR1 Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, MIM# 230740 Optic atrophy;HP:0000648 23602711;25045128;31425299;30575274;29436111;28870703 False 3 100;0;0 1.45 True ENSG00000169604 ENSG00000169604 HGNC:21014 AP3B2 gene AP3B2 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Optic atrophy;HP:0000648 27889060 False 3 100;0;0 1.45 True ENSG00000103723 ENSG00000103723 HGNC:567 ATAD3A gene ATAD3A Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Harel-Yoon syndrome, MIM#617183 Optic atrophy;HP:0000648 27640307;28652416 False 3 100;0;0 1.45 True Other ENSG00000197785 ENSG00000197785 HGNC:25567 ATG7 gene ATG7 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, SCAR31, MIM#619422 Optic atrophy;HP:0000648 34161705 False 3 100;0;0 1.45 True ENSG00000197548 ENSG00000197548 HGNC:16935 BORCS8 gene BORCS8 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Optic atrophy;HP:0000648 38128568 False 3 100;0;0 1.45 True ENSG00000254901 ENSG00000254901 HGNC:37247 C12orf65 gene C12orf65 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7;Spastic paraplegia 55, autosomal recessive Optic atrophy;HP:0000648 20598281;23188110;24198383 False 3 100;0;0 1.45 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "?Spastic paraplegia 43, autosomal recessive 61504;Neurodegeneration with brain iron accumulation 4 614298" Optic atrophy;HP:0000648 PMID: 22584950;21981780;23857908 False 3 100;0;0 1.45 True ENSG00000131943 ENSG00000131943 HGNC:25443 CISD2 gene CISD2 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, MIM#604928 Optic atrophy;HP:0000648 19451219;25056293;28335035;31391115;25371195 False 3 100;0;0 1.45 True ENSG00000145354 ENSG00000145354 HGNC:24212 DNAJC30 gene DNAJC30 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leber Hereditary Optic Neuropathy, MIM#619382 Optic atrophy;HP:0000648 33465056 False 3 100;0;0 1.45 True ENSG00000176410 ENSG00000176410 HGNC:16410 DNM1L gene DNM1L Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 5 (MIM#610708) Optic atrophy;HP:0000648 28969390;30850373;17460227 False 3 100;0;0 1.45 True Other ENSG00000087470 ENSG00000087470 HGNC:2973 FDXR gene FDXR Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM#617717 Optic atrophy;HP:0000648 30250212;28965846 False 3 100;0;0 1.45 True ENSG00000161513 ENSG00000161513 HGNC:3642 FLVCR1 gene FLVCR1 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO:0700092, FLVCR1-related Optic atrophy;HP:0000648 39306721 False 3 100;0;0 1.45 True ENSG00000162769 ENSG00000162769 HGNC:24682 HIKESHI gene HIKESHI Expert list;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 13, MIM# 616881" Optic atrophy;HP:0000648 34111619;26545878 False 3 100;0;0 1.45 True ENSG00000149196 ENSG00000149196 HGNC:26938 KIF5A gene KIF5A Expert Review Green;Literature Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myoclonus, intractable, neonatal MONDO:0014979;Leber hereditary optic neuropathy MONDO:0010788 Optic atrophy;HP:0000648 35921593;27463701 False 3 100;0;0 1.45 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000155980 ENSG00000155980 HGNC:6323 KLC2 gene KLC2 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Optic atrophy;HP:0000648 26385635 False 3 100;0;0 1.45 True ENSG00000174996 ENSG00000174996 HGNC:20716 LETM1 gene LETM1 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Optic atrophy;HP:0000648 36055214 False 3 100;0;0 1.45 True ENSG00000168924 ENSG00000168924 HGNC:6556 MECR gene MECR Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 16, MIM# 620629 Optic atrophy;HP:0000648 27817865;31137067 False 3 100;0;0 1.45 True ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Optic atrophy;HP:0000648 PMID: 26783368;22499341;30581454 False 3 100;0;0 1.45 True ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy 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# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152 Optic atrophy;HP:0000648 False 3 100;0;0 1.45 True ENSG00000116688 ENSG00000116688 HGNC:16877 NBAS gene NBAS Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly Optic atrophy;HP:0000648 PMID: 20577004;26286438 False 3 100;0;0 1.45 True ENSG00000151779 ENSG00000151779 HGNC:15625 NDUFA12 gene NDUFA12 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal isolated optic atrophy;MONDO:0003608 Optic atrophy;HP:0000648 PMID: 35141356 False 3 100;0;0 1.45 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFS2 gene NDUFS2 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228;Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569 Optic atrophy;HP:0000648 28031252;31411514;22036843;20819849;11220739;23266820;31411514 False 3 100;0;0 1.45 True ENSG00000158864 ENSG00000158864 HGNC:7708 NR2F1 gene NR2F1 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Optic atrophy;HP:0000648 32275123 False 3 100;0;0 1.45 True ENSG00000175745 ENSG00000175745 HGNC:7975 OPA1 gene OPA1 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 1 165500;Optic atrophy plus syndrome, MIM# 125250;Behr syndrome, MIM# 210000 Optic atrophy;HP:0000648 False 3 100;0;0 1.45 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR;Optic atrophy 3 with cataract (MIM#165300), AD Optic atrophy;HP:0000648 25159689;31119193;31928268 False 3 100;0;0 1.45 True Other ENSG00000125741 ENSG00000125741 HGNC:8142 PDXK gene PDXK Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Axonal polyneuropathy;optic atrophy Optic atrophy;HP:0000648 32522499;31187503;27604308 False 3 50;50;0 1.45 True ENSG00000160209 ENSG00000160209 HGNC:8819 PTCD3 gene PTCD3 Expert list;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-51, MIM#619057;Intellectual disability;optic atrophy;Leigh-like syndrome Optic atrophy;HP:0000648 30607703;19427859;36450274 False 3 100;0;0 1.45 True ENSG00000132300 ENSG00000132300 HGNC:24717 RTN4IP1 gene RTN4IP1 Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures Optic atrophy;HP:0000648 PMID: 26593267;31077085 False 3 100;0;0 1.45 True ENSG00000130347 ENSG00000130347 HGNC:18647 SLC25A46 gene SLC25A46 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB (MIM#616505);Pontocerebellar hypoplasia, type 1E, MIM# 619303 Optic atrophy;HP:0000648 26168012;28376086 False 3 100;0;0 1.45 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC44A1 gene SLC44A1 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Childhood onset degeneration;progressive ataxia;tremor;cognitive decline;dysphagia;optic atrophy;dysarthria Optic atrophy;HP:0000648 31855247 False 3 100;0;0 1.45 True ENSG00000070214 ENSG00000070214 HGNC:18798 SLC52A2 gene SLC52A2 Expert Review;Expert Review Green Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 Optic atrophy;HP:0000648 PMID: 22864630;29961509;30377535;29287867 False 3 100;0;0 1.45 True ENSG00000185803 ENSG00000185803 HGNC:30224 SPG7 gene SPG7 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant optical atrophy Optic atrophy;HP:0000648 32548275 False 3 100;0;0 1.45 True ENSG00000197912 ENSG00000197912 HGNC:11237 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy with or without extraocular phenotypes;Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Optic atrophy;HP:0000648 31298765;31479473;31550237;31550240 False 3 100;0;0 1.45 True ENSG00000106028 ENSG00000106028 HGNC:11317 TMEM126A gene TMEM126A Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7, MIM# 612989;MONDO:0013069 Optic atrophy;HP:0000648 19327736;20405026;22815638;33879611;31119195;30961538 False 3 100;0;0 1.45 True ENSG00000171202 ENSG00000171202 HGNC:25382 UCHL1 gene UCHL1 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79, autosomal recessive (MIM#615491) Optic atrophy;HP:0000648 29735986;28007905;23359680;11555633;35986737 False 3 100;0;0 1.45 True ENSG00000154277 ENSG00000154277 HGNC:12513 UFM1 gene UFM1 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, MIM# 617899 Optic atrophy;HP:0000648 28931644;29868776 False 3 100;0;0 1.45 True ENSG00000120686 ENSG00000120686 HGNC:20597 WFS1 gene WFS1 Expert Review Green;Victorian Clinical Genetics Services Optic Atrophy Ophthalmological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, autosomal recessive, MIM# 222300;Wolfram-like syndrome, autosomal dominant, MIM#614296 Optic atrophy;HP:0000648 False 3 100;0;0 1.45 True ENSG00000109501 ENSG00000109501 HGNC:12762 ZNHIT3 gene ZNHIT3 Expert Review Green;Literature Optic Atrophy Ophthalmological disorders BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, MIM# 260565 Optic atrophy;HP:0000648 28335020;28335020;31048081 False 3 100;0;0 1.45 True ENSG00000108278 ENSG00000273611 HGNC:12309 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 1.45 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 1.45 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 1.45 True ENSG00000100294 ENSG00000100294 HGNC:29622 MIR204 gene MIR204 Expert Review Amber;Literature Optic Atrophy Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Optic atrophy;HP:0000648 26056285;37321975 False 2 100;0;0 1.45 True Other ENSG00000207935 ENSG00000207935 HGNC:31582 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 1.45 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 1.45 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 1.45 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 1.45 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 1.45 True ENSG00000140521 ENSG00000140521 HGNC:9179 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 1.45 True ENSG00000159210 ENSG00000159210 HGNC:17028 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 1.45 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 1.45 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 1.45 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 1.45 True ENSG00000171307 ENSG00000171307 HGNC:20714