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 AARS2 gene AARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCB7 gene ABCB7 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000131269 ENSG00000131269 HGNC:48 ACAD9 gene ACAD9 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACO2 gene ACO2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000100412 ENSG00000100412 HGNC:118 AFG3L2 gene AFG3L2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000141385 ENSG00000141385 HGNC:315 AGK gene AGK Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000006530 ENSG00000006530 HGNC:21869 AIFM1 gene AIFM1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000156709 ENSG00000156709 HGNC:8768 APOPT1 gene APOPT1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000256053 ENSG00000256053 HGNC:20492 ATAD3A gene ATAD3A Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATP5A1 gene ATP5A1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5E gene ATP5E Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000124172 ENSG00000124172 HGNC:838 ATPAF2 gene ATPAF2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCS1L gene BCS1L Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000163170 ENSG00000163170 HGNC:24415 C12orf65 gene C12orf65 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000130921 ENSG00000130921 HGNC:26784 C1QBP gene C1QBP Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000108561 ENSG00000108561 HGNC:1243 CARS2 gene CARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000134905 ENSG00000134905 HGNC:25695 CEP89 gene CEP89 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000121289 ENSG00000121289 HGNC:25907 CHCHD10 gene CHCHD10 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000250479 ENSG00000250479 HGNC:15559 CLPB gene CLPB Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000125656 ENSG00000125656 HGNC:2084 COA3 gene COA3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000183513 ENSG00000183513 HGNC:33848 COA6 gene COA6 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000168275 ENSG00000168275 HGNC:18025 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX14 gene COX14 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I2 gene COX4I2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000131055 ENSG00000131055 HGNC:16232 COX6A1 gene COX6A1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6B1 gene COX6B1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000131174 ENSG00000131174 HGNC:2291 COX8A gene COX8A Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000176340 ENSG00000176340 HGNC:2294 CYC1 gene CYC1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000172115 ENSG00000172115 HGNC:19986 DARS2 gene DARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000117593 ENSG00000117593 HGNC:25538 DGUOK gene DGUOK Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000114956 ENSG00000114956 HGNC:2858 DLAT gene DLAT Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000091140 ENSG00000091140 HGNC:2898 DNA2 gene DNA2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC19 gene DNAJC19 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1L gene DNM1L Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000087470 ENSG00000087470 HGNC:2973 EARS2 gene EARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000127884 ENSG00000127884 HGNC:3151 ELAC2 gene ELAC2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000006744 ENSG00000006744 HGNC:14198 ERCC6L2 gene ERCC6L2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000182150 ENSG00000182150 HGNC:26922 ETHE1 gene ETHE1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000105755 ENSG00000105755 HGNC:23287 FARS2 gene FARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000112234 ENSG00000112234 HGNC:13601 FDX2 gene FDX2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000161513 ENSG00000161513 HGNC:3642 FH gene FH Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLAD1 gene FLAD1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000160688 ENSG00000160688 HGNC:24671 FOXRED1 gene FOXRED1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000110074 ENSG00000110074 HGNC:26927 FXN gene FXN Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000165060 ENSG00000165060 HGNC:3951 GARS gene GARS Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000106105 ENSG00000106105 HGNC:4162 GFER gene GFER Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164347 ENSG00000164347 HGNC:29682 GLRX5 gene GLRX5 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000182512 ENSG00000182512 HGNC:20134 GTPBP3 gene GTPBP3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000130299 ENSG00000130299 HGNC:14880 HARS2 gene HARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000112855 ENSG00000112855 HGNC:4817 HCCS gene HCCS Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000004961 ENSG00000004961 HGNC:4837 HIBCH gene HIBCH Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000198130 ENSG00000198130 HGNC:4908 HSD17B10 gene HSD17B10 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSPD1 gene HSPD1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000144381 ENSG00000144381 HGNC:5261 IARS2 gene IARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000181873 ENSG00000181873 HGNC:27302 IDH3B gene IDH3B Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000101365 ENSG00000101365 HGNC:5385 ISCA2 gene ISCA2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000136003 ENSG00000136003 HGNC:29882 KARS gene KARS Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000065427 ENSG00000065427 HGNC:6215 LARS2 gene LARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000011376 ENSG00000011376 HGNC:17095 LIAS gene LIAS Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIPT1 gene LIPT1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000175536 ENSG00000175536 HGNC:37216 LONP1 gene LONP1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000196365 ENSG00000196365 HGNC:9479 LRPPRC gene LRPPRC Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM4 gene LYRM4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000186687 ENSG00000186687 HGNC:28072 MARS2 gene MARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000247626 ENSG00000247626 HGNC:25133 MDH2 gene MDH2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000107745 ENSG00000107745 HGNC:1530 MPC1 gene MPC1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPV17 gene MPV17 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRPL12 gene MRPL12 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL3 gene MRPL3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL44 gene MRPL44 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPS16 gene MRPS16 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS22 gene MRPS22 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS23 gene MRPS23 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS34 gene MRPS34 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000074071 ENSG00000074071 HGNC:16618 MRPS7 gene MRPS7 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000125445 ENSG00000125445 HGNC:14499 MTFMT gene MTFMT Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTO1 gene MTO1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000107951 ENSG00000107951 HGNC:25532 NARS2 gene NARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXE gene NAXE Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA9 gene NDUFA9 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFB11 gene NDUFB11 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB9 gene NDUFB9 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFS1 gene NDUFS1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000178127 ENSG00000178127 HGNC:7717 NFS1 gene NFS1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000169599 ENSG00000169599 HGNC:16287 NUBPL gene NUBPL Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000151413 ENSG00000151413 HGNC:20278 OPA1 gene OPA1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000125741 ENSG00000125741 HGNC:8142 PARS2 gene PARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000162396 ENSG00000162396 HGNC:30563 PDHA1 gene PDHA1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDK3 gene PDK3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDP1 gene PDP1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000229833 ENSG00000229833 HGNC:40038 PMPCA gene PMPCA Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000165688 ENSG00000165688 HGNC:18667 PNPLA4 gene PNPLA4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000006757 ENSG00000006757 HGNC:24887 PNPLA8 gene PNPLA8 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPT1 gene PNPT1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000256525 ENSG00000256525 HGNC:9180 PPA2 gene PPA2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000138777 ENSG00000138777 HGNC:28883 PUS1 gene PUS1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000177192 ENSG00000177192 HGNC:15508 QRSL1 gene QRSL1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000130348 ENSG00000130348 HGNC:21020 RARS2 gene RARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000146282 ENSG00000146282 HGNC:21406 RMND1 gene RMND1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000171865 ENSG00000171865 HGNC:18466 RRM2B gene RRM2B Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000130347 ENSG00000130347 HGNC:18647 SARS2 gene SARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCO1 gene SCO1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHAF2 gene SDHAF2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000204370 ENSG00000204370 HGNC:10683 SERAC1 gene SERAC1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000122335 ENSG00000122335 HGNC:21061 SFXN4 gene SFXN4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000183605 ENSG00000183605 HGNC:16088 SLC19A2 gene SLC19A2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC25A1 gene SLC25A1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A19 gene SLC25A19 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A26 gene SLC25A26 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A4 gene SLC25A4 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164209 ENSG00000164209 HGNC:25198 SPG7 gene SPG7 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000197912 ENSG00000197912 HGNC:11237 STAT2 gene STAT2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLA2 gene SUCLA2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000136463 ENSG00000136463 HGNC:24316 TARS2 gene TARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAZ gene TAZ Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000102125 ENSG00000102125 HGNC:11577 TIMM50 gene TIMM50 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000126953 ENSG00000126953 HGNC:11817 TK2 gene TK2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM70 gene TMEM70 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000175606 ENSG00000175606 HGNC:26050 TPK1 gene TPK1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000196511 ENSG00000196511 HGNC:17358 TRIT1 gene TRIT1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000072756 ENSG00000072756 HGNC:17341 TSFM gene TSFM Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000011295 ENSG00000011295 HGNC:26006 TUFM gene TUFM Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000178952 ENSG00000178952 HGNC:12420 TWNK gene TWNK Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000107815 ENSG00000107815 HGNC:1160 TXN2 gene TXN2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000100348 ENSG00000100348 HGNC:17772 TYMP gene TYMP Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000025708 ENSG00000025708 HGNC:3148 UQCC2 gene UQCC2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCC3 gene UQCC3 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRB gene UQCRB Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRQ gene UQCRQ Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000164405 ENSG00000164405 HGNC:29594 VARS2 gene VARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000137411 ENSG00000137411 HGNC:21642 VPS13C gene VPS13C Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000129003 ENSG00000129003 HGNC:23594 WARS2 gene WARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000116874 ENSG00000116874 HGNC:12730 YARS2 gene YARS2 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Victorian Clinical Genetics Services Mitochondrial Metabolic disorders False 3 0;0;0 0.4 False ENSG00000139131 ENSG00000139131 HGNC:24249