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;London North GLH;NHS GMS;Other Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, OMIM:614559;Infantile cerebellar-retinal degeneration, MONDO:0013802;?Optic atrophy 9, OMIM:616289;Optic atrophy 9, MONDO:0014571 25351951;22405087;34056600 False 3 100;0;0 5.54 False ENSG00000100412 ENSG00000100412 HGNC:118 AFG3L2 gene AFG3L2 Expert Review Green;London North GLH Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977 (AD);Spastic ataxia 5, autosomal recessive, OMIM:614487 (AR) 29181157;26539208;30544562;30252181;30389403;32600459;32219868;32548275 False 3 75;25;0 5.54 False ENSG00000141385 ENSG00000141385 HGNC:315 ALPK1 gene ALPK1 Expert Review Green;Literature;Other;Research Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ROSAH syndrome, OMIM:614979 30967659;31053777;31939038;34159509;35868845 False 3 100;0;0 5.54 False Other ENSG00000073331 ENSG00000073331 HGNC:20917 ATG7 gene ATG7 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 34161705 False 3 100;0;0 5.54 False ENSG00000197548 ENSG00000197548 HGNC:16935 BORCS8 gene BORCS8 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 38128568 False 3 100;0;0 5.54 False ENSG00000254901 ENSG00000254901 HGNC:37247 BTD gene BTD Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, OMIM:253260;optic atrophy, MONDO:0003608 26203071;29025919;32235217;33364171 False 3 100;0;0 5.54 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Green;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 20598281;23188110;24080142;24198383;24284555;24424123;25995486;26380172;28091420;31753091 False 3 100;0;0 5.54 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;London North GLH;NHS GMS Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 27772766;26187298;24209434;22584950;23269600;21981780;29295770;31087512 False 3 100;0;0 5.54 False ENSG00000131943 ENSG00000131943 HGNC:25443 CISD2 gene CISD2 Expert Review Green;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal WOLFRAM SYNDROME 2, 604928 25056293;25371195;28335035 False 3 100;0;0 5.54 False ENSG00000145354 ENSG00000145354 HGNC:24212 DNAJC30 gene DNAJC30 Expert Review Green;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leber-like hereditary optic neuropathy, autosomal recessive 1, MONDO:0958183;Leber-like hereditary optic neuropathy, autosomal recessive 1, OMIM:619382 33465056;35091433;38107630 False 3 100;0;0 5.54 False ENSG00000176410 ENSG00000176410 HGNC:16410 DNM1L gene DNM1L Expert Review Green;London North GLH Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OPTIC ATROPHY 5, 610708 28969390;17460227 False 3 100;0;0 5.54 False ENSG00000087470 ENSG00000087470 HGNC:2973 EPRS gene EPRS Expert list;Expert Review Green;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal "Leukodystrophy, hypomyelinating, 15, MIM# 617951" 29576217;33805425 False 3 100;0;0 5.54 False ENSG00000136628 ENSG00000136628 HGNC:3418 FDXR gene FDXR Expert list;Expert Review Green Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717;Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 30250212;28965846;29040572;32499495;33348459 False 3 100;0;0 5.54 False ENSG00000161513 ENSG00000161513 HGNC:3642 HIKESHI gene HIKESHI Expert list;Expert Review Green;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 13, OMIM:616881 26545878;28000699;34111619 False 3 100;0;0 5.54 False ENSG00000149196 ENSG00000149196 HGNC:26938 HK1 gene HK1 BRIDGE study SPEED NEURO Tier1 Gene;Expert Review Green;NHS GMS Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 30778173;28135719 False 3 100;0;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 ENSG00000156515 ENSG00000156515 HGNC:4922 HSD17B10 gene HSD17B10 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, OMIM:300438 22132097;26950678;27295195 False 3 100;0;0 5.54 False ENSG00000072506 ENSG00000072506 HGNC:4800 ISCA2 gene ISCA2 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370;optic atrophy, MONDO:0003608 25539947;29297947;29122497;29359243 False 3 100;0;0 5.54 False ENSG00000165898 ENSG00000165898 HGNC:19857 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 5.54 False ENSG00000168924 ENSG00000168924 HGNC:6556 LHX2 gene LHX2 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown neurodevelopmental disorder 37057675 False 3 100;0;0 5.54 False ENSG00000106689 ENSG00000106689 HGNC:6594 MAG gene MAG Expert Review Green;Literature;London North GLH;NHS GMS;Yorkshire and North East GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 3 60;40;0 5.54 False ENSG00000105695 ENSG00000105695 HGNC:6783 MECR gene MECR Expert list;Expert Review Green Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 27817865;31137067 False 3 100;0;0 5.54 False ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert Review Green;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 30581454;26783368;22499341 False 3 100;0;0 5.54 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Emory Genetics Laboratory;Expert;Expert Review Green;London North GLH Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 26955893;26306937;21715711 False 3 100;0;0 5.54 False ENSG00000116688 ENSG00000116688 HGNC:16877 MIEF1 gene MIEF1 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 14, OMIM:620550;optic atrophy 14, MONDO:0957824 33632269 False 3 67;33;0 5.54 False ENSG00000100335 ENSG00000100335 HGNC:25979 MT-ATP6 gene MT-ATP6 Expert Review Green;London North GLH;UKGTN Optic neuropathy Ophthalmology MITOCHONDRIAL Leber optic atrophy;535000;neurogenic weakness, ataxia, and retinitis pigmentosa;retinopathy 7726182;10676807;26448634;26252090;24118886 (functional evidence);23266623 False 3 100;0;0 5.54 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ND1 gene MT-ND1 Expert Review Green;London North GLH;UKGTN Optic neuropathy Ophthalmology MITOCHONDRIAL Optic neuropathy and nystagmus;External ophthalmoplegia;Leber's hereditary optic neuropathy 26448634;27449621;20301353;27177320;24884847;24800637;23665487 False 3 100;0;0 5.54 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND4 gene MT-ND4 Expert Review Green;London North GLH;UKGTN Optic neuropathy Ophthalmology MITOCHONDRIAL Leber's hereditary optic neuropathy 26448634;20301353;27159682;26683077;23805034;23665487;22553750 False 3 100;0;0 5.54 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND6 gene MT-ND6 Expert Review Green;London North GLH;UKGTN Optic neuropathy Ophthalmology MITOCHONDRIAL Leber hereditary optic neuropathy;Nystagmus;severe infantile-onset complex I deficiency 26448634;24884847;24417559;24398099 False 3 100;0;0 5.54 False ENSG00000198695 ENSG00000198695 HGNC:7462 NBAS gene NBAS Expert list;Expert Review Green Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 20577004;26286438;31015584;31761904 False 3 100;0;0 5.54 False ENSG00000151779 ENSG00000151779 HGNC:15625 NDUFA12 gene NDUFA12 Expert Review Green;NHS GMS;PanelApp;South West GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 67;0;33 5.54 False ENSG00000184752 ENSG00000184752 HGNC:23987 NR2F1 gene NR2F1 Expert Review Green;London North GLH;Radboud University Medical Center, Nijmegen Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 False 3 100;0;0 5.54 False ENSG00000175745 ENSG00000175745 HGNC:7975 OPA1 gene OPA1 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 15531309;16158427;17306754;18065439;18158317;19029523;20417570;20157015;21636302;25012220;25146916;35652445 False 3 100;0;0 5.54 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;Radboud University Medical Center, Nijmegen Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autosomal Dominant Optic Atrophy;optic atrophy and cataracts;Optic atrophy 3 with cataract 25159689;26190011 False 3 100;0;0 5.54 False ENSG00000125741 ENSG00000125741 HGNC:8142 PDXK gene PDXK Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 31187503;32522499 False 3 100;0;0 5.54 False ENSG00000160209 ENSG00000160209 HGNC:8819 RTN4IP1 gene RTN4IP1 Expert Review Green;Literature;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal early-onset recessive optic neuropathy 26593267 False 3 100;0;0 5.54 False ENSG00000130347 ENSG00000130347 HGNC:18647 SLC25A46 gene SLC25A46 Expert Review Green;Literature;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Optic atrophy, MONDO:0003608;Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505;Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260 26168012;27430653;28369803;28376086;28558379;28934388;30178502;33816684 False 3 100;0;0 5.54 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC44A1 gene SLC44A1 Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868;Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028 31855247 False 3 100;0;0 5.54 False ENSG00000070214 ENSG00000070214 HGNC:18798 SLC52A2 gene SLC52A2 Expert Review Green;London North GLH;Other Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867;Optic atrophy, MONDO:0003608 22740598;22864630;23243084;24253200;30343981;30377535;31868069;35608644;36186484 False 3 100;0;0 5.54 False ENSG00000185803 ENSG00000185803 HGNC:30224 SPG7 gene SPG7 Expert;Expert Review Green;London North GLH;NHS GMS Optic neuropathy Ophthalmology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;23065789;22964162;25034272;32548275;33841295 False 3 100;0;0 5.54 False ENSG00000197912 ENSG00000197912 HGNC:11237 SSBP1 gene SSBP1 Expert list;Expert Review Green;NHS GMS Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510 31298765;31550240;31550237;30412255;31479473;31479473 False 3 100;0;0 5.54 False ENSG00000106028 ENSG00000106028 HGNC:11317 TFG gene TFG Expert Review Green;Literature;NHS GMS Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, OMIM:615658 23479643;27492651;29971521;30467354 False 3 100;0;0 5.54 False ENSG00000114354 ENSG00000114354 HGNC:11758 TMEM126A gene TMEM126A Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London North GLH;Radboud University Medical Center, Nijmegen Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Optic Atrophy, Recessive;Optic atrophy 7, 612989 19327736;20405026;22815638;30961538;31119195 False 3 100;0;0 5.54 False ENSG00000171202 ENSG00000171202 HGNC:25382 UCHL1 gene UCHL1 Expert list;Expert Review Green;NHS GMS Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 29735986;23359680;28007905;35986737 False 3 100;0;0 5.54 False ENSG00000154277 ENSG00000154277 HGNC:12513 WFS1 gene WFS1 Expert;Expert Review Green;London North GLH Optic neuropathy Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, OMIM:222300 33693650 False 3 100;0;0 5.54 False ENSG00000109501 ENSG00000109501 HGNC:12762 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 ALG3 gene ALG3 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110 False 1 0;0;100 5.54 False ENSG00000214160 ENSG00000214160 HGNC:23056 AUH gene AUH Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950 False 1 0;0;100 5.54 False ENSG00000148090 ENSG00000148090 HGNC:890 DNAJC19 gene DNAJC19 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198 27054461;16055927 False 1 0;0;100 5.54 False ENSG00000205981 ENSG00000205981 HGNC:30528 FXN gene FXN Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 19268652 False 1 0;0;100 5.54 False ENSG00000165060 ENSG00000165060 HGNC:3951 GP1BA gene GP1BA Expert Review Red;London North GLH;Radboud University Medical Center, Nijmegen Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} False 1 0;0;100 5.54 False ENSG00000185245 ENSG00000185245 HGNC:4439 INTS8 gene INTS8 Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 28542170 False 1 0;0;100 5.54 False ENSG00000164941 ENSG00000164941 HGNC:26048 KIF7 gene KIF7 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal ACROCALLOSAL SYNDROME, 200990 False 1 0;0;100 5.54 False ENSG00000166813 ENSG00000166813 HGNC:30497 LYST gene LYST Expert Review Red;Literature;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Optic neuropathy in late-onset neurodegenerative Ch diak Higashi syndrome lacking features of ocular albinism 26307451;23521865 False 1 0;0;100 5.54 False ENSG00000143669 ENSG00000143669 HGNC:1968 MTPAP gene MTPAP Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672 False 1 0;0;100 5.54 False ENSG00000107951 ENSG00000107951 HGNC:25532 NDUFS1 gene NDUFS1 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 1 0;0;100 5.54 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 28031252 False 1 0;0;100 5.54 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 14729820 False 1 0;0;100 5.54 False ENSG00000213619 ENSG00000213619 HGNC:7710 NEFH gene NEFH Expert Review Red;London North GLH Optic neuropathy Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924 False 1 0;0;100 5.54 False ENSG00000100285 ENSG00000100285 HGNC:7737 RAB3GAP1 gene RAB3GAP1 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal WARBURG MICRO SYNDROME 1, 600118 26421802 False 1 0;0;100 5.54 False ENSG00000115839 ENSG00000115839 HGNC:17063 TBC1D20 gene TBC1D20 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal WARBURG MICRO SYNDROME 4 615663 False 1 0;0;100 5.54 False ENSG00000125875 ENSG00000125875 HGNC:16133 TSFM gene TSFM Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505 25037205 False 1 0;0;100 5.54 False ENSG00000123297 ENSG00000123297 HGNC:12367 YME1L1 gene YME1L1 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 617302;sensorineural hearing impairment;ataxia;other CNS symptoms (OPA11) 30544562 False 1 0;0;100 5.54 False ENSG00000136758 ENSG00000136758 HGNC:12843 ZNHIT3 gene ZNHIT3 Expert Review Red;London North GLH Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565 28335020 False 1 0;0;100 5.54 False ENSG00000108278 ENSG00000273611 HGNC:12309 ZPR1 gene ZPR1 Expert Review Red;Literature Optic neuropathy Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 29851065 False 1 0;0;100 5.54 False ENSG00000109917 ENSG00000109917 HGNC:13051