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;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096;Leukoencephalopathy, progressive, with ovarian failure, 615889 False 3 100;0;0 4.27 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 25738457 False 3 75;0;25 4.27 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCB7 gene ABCB7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, 301310 False 3 100;0;0 4.27 False ENSG00000131269 ENSG00000131269 HGNC:48 ACAD9 gene ACAD9 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, 611126 False 3 100;0;0 4.27 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACO2 gene ACO2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 100;0;0 4.27 False ENSG00000100412 ENSG00000100412 HGNC:118 AFG3L2 gene AFG3L2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 25420100 False 3 100;0;0 4.27 False ENSG00000141385 ENSG00000141385 HGNC:315 AGK gene AGK Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350 False 3 100;0;0 4.27 False ENSG00000006530 ENSG00000006530 HGNC:21869 AIFM1 gene AIFM1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, 300816 False 3 100;0;0 4.27 False ENSG00000156709 ENSG00000156709 HGNC:8768 APOPT1 gene APOPT1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 False 3 100;0;0 4.27 False ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 False 3 67;0;33 4.27 False ENSG00000137074 ENSG00000137074 HGNC:15984 ATAD3A gene ATAD3A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 False 3 67;33;0 4.27 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATP5A1 gene ATP5A1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 23596069;23599390;34483339;34954817 False 3 71;29;0 4.27 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5D gene ATP5D Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 29478781 False 3 100;0;0 4.27 True ENSG00000099624 ENSG00000099624 HGNC:837 ATP5E gene ATP5E Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053;mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 20566710;25954304;34954817 False 3 83;17;0 4.27 True ENSG00000124172 ENSG00000124172 HGNC:838 ATP5G3 gene ATP5G3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 34636445;34954817 False 3 60;40;0 4.27 True ENSG00000154518 ENSG00000154518 HGNC:843 ATP5O gene ATP5O Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 34954817;35621276 False 3 80;20;0 4.27 True ENSG00000241837 ENSG00000241837 HGNC:850 ATPAF2 gene ATPAF2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 False 3 67;33;0 4.27 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCS1L gene BCS1L Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000 False 3 100;0;0 4.27 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 False 3 100;0;0 4.27 False ENSG00000163170 ENSG00000163170 HGNC:24415 BTD gene BTD Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, 253260 False 3 33;33;33 4.27 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 False 3 100;0;0 4.27 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf70 gene C19orf70 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, OMIM:618329 29618761;27485409;27623147 False 3 100;0;0 4.27 True ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Expert list;Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, 617713 False 3 100;0;0 4.27 False ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423;combined oxidative phosphorylation deficiency 53, MONDO:0030378 34038740;33945503 False 3 100;0;0 4.27 False ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 26913920;24530203 False 3 100;0;0 4.27 True ENSG00000174990 ENSG00000174990 HGNC:1377 CARS2 gene CARS2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, 616672 False 3 100;0;0 4.27 False ENSG00000134905 ENSG00000134905 HGNC:25695 CHCHD10 gene CHCHD10 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinal muscular atrophy, Jokela type 615048;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911;?Myopathy, isolated mitochondrial, autosomal dominant, 616209 31261376 False 3 100;0;0 4.27 False ENSG00000250479 ENSG00000250479 HGNC:15559 CLPB gene CLPB Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 25597510;25597511;25650066;26916670;28687938;34140661;34115842 False 3 100;0;0 4.27 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 False 3 100;0;0 4.27 False ENSG00000125656 ENSG00000125656 HGNC:2084 COA6 gene COA6 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 22277967;24549041;25959673;25339201 False 3 100;0;0 4.27 True ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 29718187;27683825 False 3 100;0;0 4.27 True ENSG00000162377 ENSG00000162377 HGNC:25716 COQ2 gene COQ2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 False 3 100;0;0 4.27 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, 616276 False 3 100;0;0 4.27 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 False 3 100;0;0 4.27 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 8 616733 28409910;26084283;30369941 False 3 67;33;0 4.27 True ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4, 612016 False 3 100;0;0 4.27 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, 615573 False 3 100;0;0 4.27 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654 False 3 67;33;0 4.27 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 3 100;0;0 4.27 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 3 60;40;0 4.27 True ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 4.27 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 4.27 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I1 gene COX4I1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 28766551;31290619 False 3 33;67;0 4.27 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 28247525;35246835 False 3 50;50;0 4.27 True ENSG00000178741 ENSG00000178741 HGNC:2267 COX6A1 gene COX6A1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 100;0;0 4.27 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 75;25;0 4.27 False ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 3 100;0;0 4.27 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 2, 300887 False 3 100;0;0 4.27 False ENSG00000131174 ENSG00000131174 HGNC:2291 CRLS1 gene CRLS1 Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 3 100;0;0 4.27 False ENSG00000088766 ENSG00000088766 HGNC:16148 CYC1 gene CYC1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6, 615453 False 3 100;0;0 4.27 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 4, OMIM:612004 18345000;24326104;30051457 False 3 75;0;25 4.27 False ENSG00000172115 ENSG00000172115 HGNC:19986 DARS2 gene DARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 False 3 100;0;0 4.27 False ENSG00000117593 ENSG00000117593 HGNC:25538 DGUOK gene DGUOK Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 False 3 100;0;0 4.27 False ENSG00000114956 ENSG00000114956 HGNC:2858 DLAT gene DLAT Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 False 3 100;0;0 4.27 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900 False 3 100;0;0 4.27 False ENSG00000091140 ENSG00000091140 HGNC:2898 DNA2 gene DNA2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 23352259 False 3 100;0;0 4.27 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC19 gene DNAJC19 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198 False 3 100;0;0 4.27 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1L gene DNM1L Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388;Optic atrophy 5, 610708 False 3 100;0;0 4.27 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate B, 606482;Charcot-Marie-Tooth disease, axonal type 2M, 606482;Centronuclear myopathy 1, 160150 25492887;https://doi.org/10.1016/j.nmd.2012.06.124 False 3 100;0;0 4.27 True ENSG00000079805 ENSG00000079805 HGNC:2974 EARS2 gene EARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924 False 3 100;0;0 4.27 False ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 4.27 False ENSG00000127884 ENSG00000127884 HGNC:3151 ELAC2 gene ELAC2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, 615440 False 3 100;0;0 4.27 False ENSG00000006744 ENSG00000006744 HGNC:14198 ETFDH gene ETFDH Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, 231680 False 3 100;0;0 4.27 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473 False 3 100;0;0 4.27 False ENSG00000105755 ENSG00000105755 HGNC:23287 FARS2 gene FARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, 614946;Spastic paraplegia 77, autosomal recessive, 617046 False 3 100;0;0 4.27 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 28499982 False 3 100;0;0 4.27 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) 25868664 False 3 100;0;0 4.27 False ENSG00000112234 ENSG00000112234 HGNC:13601 FDX2 gene FDX2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 30010796;28803783;24281368 False 3 75;25;0 4.27 True ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert list;Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717;Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 False 3 100;0;0 4.27 False ENSG00000161513 ENSG00000161513 HGNC:3642 FH gene FH Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 False 3 100;0;0 4.27 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLAD1 gene FLAD1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 False 3 50;50;0 4.27 False ENSG00000160688 ENSG00000160688 HGNC:24671 FOXRED1 gene FOXRED1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 False 3 100;0;0 4.27 False ENSG00000110074 ENSG00000110074 HGNC:26927 GARS gene GARS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VA, 600794;Charcot-Marie-Tooth disease, type 2D, 601472 False 3 100;0;0 4.27 False ENSG00000106105 ENSG00000106105 HGNC:4162 GDAP1 gene GDAP1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 False 3 100;0;0 4.27 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 False 3 100;0;0 4.27 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, 609060 False 3 100;0;0 4.27 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397;Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits 29075935;22700954;26016410 False 3 100;0;0 4.27 False ENSG00000164347 ENSG00000164347 HGNC:29682 GLRX5 gene GLRX5 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859;ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 False 3 100;0;0 4.27 False ENSG00000182512 ENSG00000182512 HGNC:20134 GTPBP3 gene GTPBP3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 61698 False 3 100;0;0 4.27 False ENSG00000130299 ENSG00000130299 HGNC:14880 HADHB gene HADHB Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2, OMIM:620300 35403730 False 3 50;0;50 4.27 False ENSG00000138029 ENSG00000138029 HGNC:4803 HARS2 gene HARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Perrault syndrome 2, 614926 21464306;27650058 False 3 67;33;0 4.27 False ENSG00000112855 ENSG00000112855 HGNC:4817 HCCS gene HCCS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1, 309801 False 3 100;0;0 4.27 False ENSG00000004961 ENSG00000004961 HGNC:4837 HIBCH gene HIBCH Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 False 3 100;0;0 4.27 False ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 False 3 100;0;0 4.27 False ENSG00000159267 ENSG00000159267 HGNC:4976 HPDL gene HPDL Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026;Spastic paraplegia 83, autosomal recessive OMIM:619027 32707086 False 3 67;33;0 4.27 False ENSG00000186603 ENSG00000186603 HGNC:28242 HSD17B10 gene HSD17B10 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial 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 26950678;12696021;19706438;22132097 False 3 100;0;0 4.27 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSPA9 gene HSPA9 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM:616854;Anemia, sideroblastic, 4, OMIM:182170 26491070;26598328;32869452;35779070;36052765 False 3 75;0;25 4.27 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR);Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) False 3 100;0;0 4.27 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, 617248 False 3 100;0;0 4.27 False ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 30041933;28328135;25130867 False 3 100;0;0 4.27 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330;?Spastic paraplegia 74, autosomal recessive, OMIM:616451 False 3 100;0;0 4.27 False ENSG00000181873 ENSG00000181873 HGNC:27302 IDH3A gene IDH3A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563 31012789;30478029;30058936;28412069;28058510 False 3 100;0;0 4.27 False ENSG00000166411 ENSG00000166411 HGNC:5384 ISCA1 gene ISCA1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 28356563;29767723 False 3 100;0;0 4.27 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 False 3 100;0;0 4.27 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, 255125 18296749;29079705;19567699;20206689 False 3 100;0;0 4.27 False ENSG00000136003 ENSG00000136003 HGNC:29882 KARS gene KARS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 89 613916;?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 False 3 100;0;0 4.27 False ENSG00000065427 ENSG00000065427 HGNC:6215 LARS2 gene LARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis False 3 100;0;0 4.27 False ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 4.27 False ENSG00000168924 ENSG00000168924 HGNC:6556 LIAS gene LIAS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462 False 3 100;0;0 4.27 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 3 100;0;0 4.27 False ENSG00000005156 ENSG00000005156 HGNC:6600 LIPT1 gene LIPT1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 False 3 100;0;0 4.27 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 28757203;28803783 False 3 25;75;0 4.27 False ENSG00000175536 ENSG00000175536 HGNC:37216 LONP1 gene LONP1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, 600373 False 3 100;0;0 4.27 False ENSG00000196365 ENSG00000196365 HGNC:9479 LRPPRC gene LRPPRC Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 False 3 100;0;0 4.27 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM4 gene LYRM4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, OMIM:615595 23814038;31497476 False 3 80;20;0 4.27 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, 615838 29353736 False 3 100;0;0 4.27 False ENSG00000186687 ENSG00000186687 HGNC:28072 MARS2 gene MARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, 611390;?Combined oxidative phosphorylation deficiency 25, 616430 False 3 100;0;0 4.27 False ENSG00000247626 ENSG00000247626 HGNC:25133 MDH2 gene MDH2 Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51, 617339 False 3 100;0;0 4.27 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 False 3 100;0;0 4.27 False ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 False 3 100;0;0 4.27 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial 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 22556188;22189565 False 3 100;0;0 4.27 False ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11, 615084 23313956 False 3 100;0;0 4.27 False ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, 615673 False 3 100;0;0 4.27 False ENSG00000107745 ENSG00000107745 HGNC:1530 MIPEP gene MIPEP Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, 617228 27799064 False 3 100;0;0 4.27 False ENSG00000027001 ENSG00000027001 HGNC:7104 MPC1 gene MPC1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, OMIM:614741 22628558 False 3 100;0;0 4.27 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPV17 gene MPV17 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 False 3 100;0;0 4.27 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRM2 gene MRM2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 28973171;36002240 False 3 80;20;0 4.27 False ENSG00000122687 ENSG00000122687 HGNC:16352 MRPL3 gene MRPL3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9, 614582 21786366;27815843 False 3 75;25;0 4.27 True ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL39 gene MRPL39 Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 59, OMIM:620646 37133451 False 3 100;0;0 4.27 False ENSG00000154719 ENSG00000154719 HGNC:14027 MRPL44 gene MRPL44 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395 25797485;23315540 False 3 100;0;0 4.27 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPS2 gene MRPS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36, 617950 29576219 False 3 67;33;0 4.27 True ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5, 611719 False 3 100;0;0 4.27 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert list;Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32, 617664 False 3 100;0;0 4.27 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSTO1 gene MSTO1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 28554942;28544275;29339779;37431817 False 3 100;0;0 4.27 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTFMT gene MTFMT Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 22499348 False 3 100;0;0 4.27 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTO1 gene MTO1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, 614702 False 3 100;0;0 4.27 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672 27959697;27391121 False 3 100;0;0 4.27 False ENSG00000107951 ENSG00000107951 HGNC:25532 NADK2 gene NADK2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 29388319 False 3 100;0;0 4.27 False ENSG00000152620 ENSG00000152620 HGNC:26404 NARS2 gene NARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24, 616239 False 3 100;0;0 4.27 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXE gene NAXE Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 False 3 100;0;0 4.27 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency, nuclear type 12, 301020 False 3 100;0;0 4.27 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, 618243 False 3 100;0;0 4.27 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, 618236 False 3 100;0;0 4.27 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 80;20;0 4.27 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 25901006;32722639 False 3 80;20;0 4.27 False ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13, 618235 False 3 100;0;0 4.27 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447;29636225 False 3 75;25;0 4.27 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 67;33;0 4.27 True ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 15576045;33153867;32385911 False 3 60;40;0 4.27 False ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 22114105;28671271 False 3 75;25;0 4.27 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, 618234 False 3 100;0;0 4.27 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 False 3 100;0;0 4.27 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, 618240 False 3 100;0;0 4.27 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 False 3 100;0;0 4.27 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 616238 False 3 100;0;0 4.27 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, 612392 False 3 100;0;0 4.27 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 3 100;0;0 4.27 True ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;32025618;33169436 False 3 60;40;0 4.27 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Mitochondrial complex I deficiency, nuclear type 30, 301021;Linear skin defects with multiple congenital anomalies 3, 300952 False 3 100;0;0 4.27 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 False 3 100;0;0 4.27 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB7 gene NDUFB7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 33502047;27626371;40025060 False 3 60;40;0 4.27 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 27290639;29429571 False 3 67;33;0 4.27 True ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC2 gene NDUFC2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 32969598 False 3 80;20;0 4.27 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 3 100;0;0 4.27 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 False 3 100;0;0 4.27 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 False 3 100;0;0 4.27 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010 False 3 100;0;0 4.27 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, 618232 False 3 100;0;0 4.27 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 3 100;0;0 4.27 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 3 100;0;0 4.27 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4, 618225 False 3 100;0;0 4.27 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, 618229 False 3 100;0;0 4.27 False ENSG00000178127 ENSG00000178127 HGNC:7717 NFS1 gene NFS1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, OMIM:619386 24498631;33457206 False 3 67;17;17 4.27 False ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 False 3 100;0;0 4.27 False ENSG00000169599 ENSG00000169599 HGNC:16287 NSUN3 gene NSUN3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, OMIM:619012 27356879;32488845 False 3 75;25;0 4.27 False ENSG00000178694 ENSG00000178694 HGNC:26208 NUBPL gene NUBPL Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, 618242 False 3 100;0;0 4.27 False ENSG00000151413 ENSG00000151413 HGNC:20278 OPA1 gene OPA1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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 False 3 100;0;0 4.27 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Optic atrophy 3 with cataract, 165300 False 3 100;0;0 4.27 False ENSG00000125741 ENSG00000125741 HGNC:8142 OXCT1 gene OXCT1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 8751852;10964512;11757586;23420214;25778941 False 3 50;0;50 4.27 False ENSG00000083720 ENSG00000083720 HGNC:8527 PANK2 gene PANK2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal HARP syndrome, 607236;Neurodegeneration with brain iron accumulation 1, 234200 11479594;12510040;25778941;28863176 False 3 67;0;33 4.27 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Infantile-onset encephalopathy;Alpers syndrome;Infantile-onset neurodegenerative disorder;Epileptic encephalopathy, early infantile, 75, 61843 28077841;27290639;25629079;29915213 False 3 100;0;0 4.27 False ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 False 3 100;0;0 4.27 False ENSG00000173599 ENSG00000173599 HGNC:8636 PDHA1 gene PDHA1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 False 3 100;0;0 4.27 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 18164639;15138885;19924563 False 3 100;0;0 4.27 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 False 3 100;0;0 4.27 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 False 3 100;0;0 4.27 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, 614651 22494076 False 3 100;0;0 4.27 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3, 614652 False 3 100;0;0 4.27 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 4.27 False ENSG00000229833 ENSG00000229833 HGNC:40038 PMPCA gene PMPCA Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, 213200 False 3 100;0;0 4.27 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 100;0;0 4.27 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNPLA8 gene PNPLA8 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, 251950 29681094;25512002;25473036 False 3 67;33;0 4.27 True ENSG00000135241 ENSG00000135241 HGNC:28900 PNPT1 gene PNPT1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Deafness, autosomal recessive 70, OMIM:614934;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 3 100;0;0 4.27 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459;Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Progressive external ophthalmoplegia, autosomal dominant 1, 157640;Progressive external ophthalmoplegia, autosomal recessive 1, 258450 False 3 100;0;0 4.27 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 16685652;21555342;27592148;30157269;31778857 False 3 100;0;0 4.27 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLRMT gene POLRMT Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, OMIM:619743;combined oxidative phosphorylation deficiency 55, MONDO:0859228 24386581;33602924;40583167 False 3 100;0;0 4.27 False ENSG00000099821 ENSG00000099821 HGNC:9200 PPA2 gene PPA2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, 617222;?Sudden cardiac failure, alcohol-induced, 617223 27523597 False 3 100;0;0 4.27 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPOX gene PPOX Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Variegate porphyria, OMIM:176200;Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297;variegate porphyria, childhood-onset, MONDO:0957577 8290408;9540991;10486317;10870850;25778941;30476629;32247286;33159949;35584894;37879139;38940544;40114189 False 3 75;0;25 4.27 False ENSG00000143224 ENSG00000143224 HGNC:9280 PTCD3 gene PTCD3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 3 80;20;0 4.27 False ENSG00000132300 ENSG00000132300 HGNC:24717 PUS1 gene PUS1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 False 3 100;0;0 4.27 False ENSG00000177192 ENSG00000177192 HGNC:15508 QARS gene QARS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 28620870;25471517;25432320;25041233;24656866;32042906 False 3 50;25;25 4.27 False ENSG00000172053 ENSG00000172053 HGNC:9751 QRSL1 gene QRSL1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40, OMIM:618835 26741492;29440775;30283131 False 3 100;0;0 4.27 False ENSG00000130348 ENSG00000130348 HGNC:21020 RARS2 gene RARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523 False 3 100;0;0 4.27 False ENSG00000146282 ENSG00000146282 HGNC:21406 RMND1 gene RMND1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, 614922 False 3 100;0;0 4.27 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 False 3 100;0;0 4.27 False ENSG00000171865 ENSG00000171865 HGNC:18466 RRM2B gene RRM2B Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type);Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 False 3 100;0;0 4.27 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 False 3 100;0;0 4.27 False ENSG00000130347 ENSG00000130347 HGNC:18647 SACS gene SACS Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550 False 3 100;0;0 4.27 False ENSG00000151835 ENSG00000151835 HGNC:10519 SARS2 gene SARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 False 3 100;0;0 4.27 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCO1 gene SCO1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 False 3 100;0;0 4.27 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 False 3 100;0;0 4.27 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642 10976639;27683074;33471299 False 3 100;0;0 4.27 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 22995659;26642834;19465911 False 3 100;0;0 4.27 True ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 22972948;26925370;27604842;32124427 False 3 80;20;0 4.27 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 26008905;24367056 False 3 100;0;0 4.27 True ENSG00000204370 ENSG00000204370 HGNC:10683 SERAC1 gene SERAC1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 False 3 100;0;0 4.27 False ENSG00000122335 ENSG00000122335 HGNC:21061 SFXN4 gene SFXN4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, 615578 24119684 False 3 100;0;0 4.27 True ENSG00000183605 ENSG00000183605 HGNC:16088 SLC19A2 gene SLC19A2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 3 100;0;0 4.27 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 False 3 100;0;0 4.27 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC25A1 gene SLC25A1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 23, presynaptic, 618197;Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 False 3 100;0;0 4.27 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 39, 612949 False 3 100;0;0 4.27 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A19 gene SLC25A19 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, AMISH TYPE, 607196;THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 False 3 100;0;0 4.27 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A26 gene SLC25A26 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 False 3 100;0;0 4.27 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, 610773 False 3 100;0;0 4.27 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Exercise intolerance, riboflavin-responsive, 616839 26933868;28443623 False 3 50;50;0 4.27 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A38 gene SLC25A38 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 False 3 100;0;0 4.27 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 27693233 False 3 100;0;0 4.27 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 26541337;29923093;29327420 False 3 100;0;0 4.27 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, 616505 False 3 100;0;0 4.27 False ENSG00000164209 ENSG00000164209 HGNC:25198 SPG7 gene SPG7 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial 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 24727571;9635427;16534102;17646629;18200586;20186691;22571692 False 3 100;0;0 4.27 False ENSG00000197912 ENSG00000197912 HGNC:11237 SQOR gene SQOR Expert Review Green;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 32160317 False 3 50;50;0 4.27 False ENSG00000137767 ENSG00000137767 HGNC:20390 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 34905022;31550240;31550237;31298765;31479473 False 3 75;0;25 4.27 False Other ENSG00000106028 ENSG00000106028 HGNC:11317 SUCLA2 gene SUCLA2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 False 3 100;0;0 4.27 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 False 3 100;0;0 4.27 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 False 3 100;0;0 4.27 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 4.27 False ENSG00000136463 ENSG00000136463 HGNC:24316 TARS2 gene TARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918 33153448;24827421;34508595;26811336 False 3 67;33;0 4.27 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAZ gene TAZ Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, 302060 False 3 100;0;0 4.27 False ENSG00000102125 ENSG00000102125 HGNC:11577 TFAM gene TFAM Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 27448789;31785789;32399598;34647195 False 3 75;25;0 4.27 False ENSG00000108064 ENSG00000108064 HGNC:11741 TIMM50 gene TIMM50 Expert list;Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, 617698 False 3 100;0;0 4.27 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700 False 3 100;0;0 4.27 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 28604674;33278652 False 3 75;25;0 4.27 False ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 21937588 False 3 100;0;0 4.27 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, 618250 False 3 60;40;0 4.27 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM70 gene TMEM70 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 False 3 100;0;0 4.27 False ENSG00000175606 ENSG00000175606 HGNC:26050 TOMM7 gene TOMM7 Expert Review Green;Literature;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601;Garg-Mishra progeroid syndrome, MONDO:0957953 36282599;36299998;39333057 False 3 50;50;0 4.27 False ENSG00000196683 ENSG00000196683 HGNC:21648 TOP3A gene TOP3A Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 29290614 False 3 100;0;0 4.27 True ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 False 3 100;0;0 4.27 False ENSG00000196511 ENSG00000196511 HGNC:17358 TRIT1 gene TRIT1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 28185376;24901367 False 3 100;0;0 4.27 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 30, 616974 27132592 False 3 67;33;0 4.27 True ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 False 3 100;0;0 4.27 False ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal LIVER FAILURE, INFANTILE, TRANSIENT, 613070 False 3 100;0;0 4.27 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084;Retinitis pigmentosa and erythrocytic microcytosis, 616959 False 3 100;0;0 4.27 False ENSG00000072756 ENSG00000072756 HGNC:17341 TSFM gene TSFM Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505 False 3 100;0;0 4.27 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 False 3 100;0;0 4.27 False ENSG00000011295 ENSG00000011295 HGNC:26006 TUFM gene TUFM Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, 610678 False 3 100;0;0 4.27 False ENSG00000178952 ENSG00000178952 HGNC:12420 TWNK gene TWNK Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286;Perrault syndrome 5, OMIM:616138 False 3 100;0;0 4.27 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 False 3 100;0;0 4.27 False ENSG00000025708 ENSG00000025708 HGNC:3148 UQCC2 gene UQCC2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 3 75;25;0 4.27 True ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 12709789;25446085;28604960 False 3 100;0;0 4.27 True ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 23281071;28275242;33865955 False 3 67;33;0 4.27 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 31883641 False 3 60;40;0 4.27 False ENSG00000169021 ENSG00000169021 HGNC:12587 VARS2 gene VARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, 615917 False 3 100;0;0 4.27 False ENSG00000137411 ENSG00000137411 HGNC:21642 WARS2 gene WARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 28905505;28650581;28236339 False 3 67;33;0 4.27 True ENSG00000116874 ENSG00000116874 HGNC:12730 YARS2 gene YARS2 Expert Review Green;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 False 3 100;0;0 4.27 False ENSG00000139131 ENSG00000139131 HGNC:24249 ANO10 gene ANO10 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728 25778941 False 2 40;40;20 4.27 False ENSG00000160746 ENSG00000160746 HGNC:25519 ATP5B gene ATP5B Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 20;80;0 4.27 True ENSG00000110955 ENSG00000110955 HGNC:830 ATP5C1 gene ATP5C1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000165629 ENSG00000165629 HGNC:833 ATP5G1 gene ATP5G1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000135390 ENSG00000135390 HGNC:842 ATP5I gene ATP5I Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000154723 ENSG00000154723 HGNC:847 CEP89 gene CEP89 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 23575228 False 2 67;33;0 4.27 True ENSG00000121289 ENSG00000121289 HGNC:25907 COA1 gene COA1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000106603 ENSG00000106603 HGNC:21868 COA3 gene COA3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 25604084 False 2 67;33;0 4.27 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 21457908 False 2 67;33;0 4.27 True ENSG00000183513 ENSG00000183513 HGNC:33848 COQ5 gene COQ5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 33;67;0 4.27 True ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053 22243966 False 2 60;40;0 4.27 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355;Hypertrophic cardiomyopathy;Encephalopathy;Severe fatal lactic acidosis 33169484 False 2 33;67;0 4.27 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX18 gene COX18 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626 37468577;40830826 False 2 67;33;0 4.27 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 19268275 False 2 67;33;0 4.27 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX5B gene COX5B Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 True ENSG00000135940 ENSG00000135940 HGNC:2269 COX6C gene COX6C Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7C gene COX7C Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, 220110 False 2 67;33;0 4.27 False ENSG00000176340 ENSG00000176340 HGNC:2294 ERAL1 gene ERAL1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 False 2 50;50;0 4.27 False ENSG00000132591 ENSG00000132591 HGNC:3424 GATB gene GATB Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 30283131 False 2 67;0;33 4.27 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy disorder 30283131 False 2 67;33;0 4.27 False ENSG00000257218 ENSG00000257218 HGNC:25068 IDH3B gene IDH3B Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572 18806796 False 2 67;33;0 4.27 True ENSG00000101365 ENSG00000101365 HGNC:5385 MRPL12 gene MRPL12 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Growth retardation and neurological deterioration 23603806 False 2 50;25;25 4.27 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPS14 gene MRPS14 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 50;50;0 4.27 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2, 610498 28749478;15505824 False 2 50;50;0 4.27 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS23 gene MRPS23 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hepatic disease 26741492 False 2 67;33;0 4.27 False ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS7 gene MRPS7 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 34, 617872 False 2 67;33;0 4.27 False ENSG00000125445 ENSG00000125445 HGNC:14499 NDUFA3 gene NDUFA3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 2 33;67;0 4.27 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA5 gene NDUFA5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 50;50;0 4.27 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA7 gene NDUFA7 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFB9 gene NDUFB9 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24, 618245 False 2 67;33;0 4.27 False ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC1 gene NDUFC1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000160194 ENSG00000160194 HGNC:7719 OXA1L gene OXA1L Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 30201738 False 2 33;67;0 4.27 False ENSG00000155463 ENSG00000155463 HGNC:8526 PDE12 gene PDE12 Expert Review Amber;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970 39567835 False 2 100;0;0 4.27 False ENSG00000174840 ENSG00000174840 HGNC:25386 PET117 gene PET117 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 33;67;0 4.27 False ENSG00000232838 ENSG00000232838 HGNC:40045 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 4.27 False ENSG00000110536 ENSG00000110536 HGNC:26965 SDHAF2 gene SDHAF2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 50;25;25 4.27 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 67;33;0 4.27 False ENSG00000143252 ENSG00000143252 HGNC:10682 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 29517768 False 2 0;100;0 4.27 False ENSG00000183032 ENSG00000183032 HGNC:14411 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 30452684 False 2 50;50;0 4.27 False ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 28295037 False 2 50;50;0 4.27 False ENSG00000164983 ENSG00000164983 HGNC:25203 TXN2 gene TXN2 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29, 616811 False 2 67;33;0 4.27 False ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC3 gene UQCC3 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type 9, 616111 False 2 67;33;0 4.27 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 25;75;0 4.27 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRH gene UQCRH Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 4.27 False ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546 False 2 67;33;0 4.27 False ENSG00000164405 ENSG00000164405 HGNC:29594 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 False 2 50;50;0 4.27 False ENSG00000136758 ENSG00000136758 HGNC:12843 ACADM gene ACADM Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 False 1 0;0;100 4.27 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 False 1 0;0;100 4.27 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, 610006 False 1 0;0;100 4.27 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 False 1 0;0;100 4.27 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, 203750 False 1 0;0;100 4.27 False ENSG00000075239 ENSG00000075239 HGNC:93 ATP5F1 gene ATP5F1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000116459 ENSG00000116459 HGNC:840 ATP5H gene ATP5H Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000167863 ENSG00000167863 HGNC:845 ATP5J2 gene ATP5J2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000241468 ENSG00000241468 HGNC:848 ATP5L gene ATP5L Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000167283 ENSG00000167283 HGNC:14247 ATP5L2 gene ATP5L2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000249222 ENSG00000249222 HGNC:13213 ATPAF1 gene ATPAF1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000123472 ENSG00000123472 HGNC:18803 C19orf12 gene C19orf12 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, 614298;?Spastic paraplegia 43, autosomal recessive, 615043 False 1 33;0;67 4.27 False ENSG00000131943 ENSG00000131943 HGNC:25443 CHKB gene CHKB Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, 602541 False 1 67;0;33 4.27 False ENSG00000100288 ENSG00000100288 HGNC:1938 CISD2 gene CISD2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, 604928 False 1 0;0;100 4.27 False ENSG00000145354 ENSG00000145354 HGNC:24212 COA4 gene COA4 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000181924 ENSG00000181924 HGNC:24604 COASY gene COASY Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 12, 618266;Neurodegeneration with brain iron accumulation 6, 615643 False 1 0;0;100 4.27 False ENSG00000068120 ENSG00000068120 HGNC:29932 COX17 gene COX17 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000138495 ENSG00000138495 HGNC:2264 COX19 gene COX19 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000240230 ENSG00000240230 HGNC:28074 COX6B2 gene COX6B2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000160471 ENSG00000160471 HGNC:24380 CPT1A gene CPT1A Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, 255120 False 1 0;0;100 4.27 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110 False 1 0;0;100 4.27 False ENSG00000157184 ENSG00000157184 HGNC:2330 D2HGDH gene D2HGDH Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721 False 1 0;0;100 4.27 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 False 1 33;33;33 4.27 False ENSG00000115866 ENSG00000115866 HGNC:2678 DCC gene DCC Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mirror movements 1 and/or agenesis of the corpus callosum, 157600;Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 False 1 0;50;50 4.27 False ENSG00000187323 ENSG00000187323 HGNC:2701 DHTKD1 gene DHTKD1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025;2-aminoadipic 2-oxoadipic aciduria, 204750 False 1 33;33;33 4.27 False ENSG00000181192 ENSG00000181192 HGNC:23537 ECSIT gene ECSIT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000130159 ENSG00000130159 HGNC:29548 ETFA gene ETFA Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA ,231680 False 1 0;0;100 4.27 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB ,231680 False 1 0;0;100 4.27 False ENSG00000105379 ENSG00000105379 HGNC:3482 FXN gene FXN Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 67;0;33 4.27 False ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 False 1 0;0;100 4.27 False ENSG00000131482 ENSG00000131482 HGNC:4056 GATM gene GATM Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 False 1 50;0;50 4.27 False ENSG00000171766 ENSG00000171766 HGNC:4175 GLUD1 gene GLUD1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinism-hyperammonemia syndrome, 606762 False 1 50;0;50 4.27 False ENSG00000148672 ENSG00000148672 HGNC:4335 HADH gene HADH Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 4, 609975;3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 False 1 0;0;100 4.27 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, 609015;LCHAD deficiency, 609016 False 1 0;0;100 4.27 False ENSG00000084754 ENSG00000084754 HGNC:4801 HMGCL gene HMGCL Expert Review Red;NHS GMS;Other Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450 False 1 50;0;50 4.27 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 False 1 0;0;100 4.27 False ENSG00000134240 ENSG00000134240 HGNC:5008 HTT gene HTT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Other Huntington disease, OMIM:143100 False 1 0;0;100 4.27 False ENSG00000197386 ENSG00000197386 HGNC:4851 IER3IP1 gene IER3IP1 Expert Review Red;NHS GMS;Other Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231 False 1 33;0;67 4.27 False ENSG00000134049 ENSG00000134049 HGNC:18550 L2HGDH gene L2HGDH Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 False 1 0;0;100 4.27 False ENSG00000087299 ENSG00000087299 HGNC:20499 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype 28837730 False 1 50;50;0 4.27 False ENSG00000003509 ENSG00000003509 HGNC:28816 NNT gene NNT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 27129361 False 1 33;33;33 4.27 True ENSG00000112992 ENSG00000112992 HGNC:7863 PDK3 gene PDK3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 1 25;25;50 4.27 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDP2 gene PDP2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown None False 1 0;33;67 4.27 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown None False 1 33;33;33 4.27 False ENSG00000090857 ENSG00000090857 HGNC:30264 PITRM1 gene PITRM1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype 26697887;29764912;29383861 False 1 67;0;33 4.27 False ENSG00000107959 ENSG00000107959 HGNC:17663 PNPLA4 gene PNPLA4 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females No OMIM phenotype 26741492 False 1 0;0;100 4.27 False ENSG00000006757 ENSG00000006757 HGNC:24887 PYCR1 gene PYCR1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIB, 614438;Cutis laxa, autosomal recessive, type IIB, 612940 False 1 50;0;50 4.27 False ENSG00000183010 ENSG00000183010 HGNC:9721 ROBO3 gene ROBO3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 False 1 50;0;50 4.27 False ENSG00000154134 ENSG00000154134 HGNC:13433 SAMHD1 gene SAMHD1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 False 1 33;0;67 4.27 False ENSG00000101347 ENSG00000101347 HGNC:15925 SDHAF3 gene SDHAF3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000196636 ENSG00000196636 HGNC:21752 SDHAF4 gene SDHAF4 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000154079 ENSG00000154079 HGNC:20957 SLC22A5 gene SLC22A5 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427 False 1 0;0;100 4.27 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II, 603471;Citrullinemia, type II, neonatal-onset 605814 False 1 50;0;50 4.27 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A20 gene SLC25A20 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, 212138 False 1 0;0;100 4.27 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304 19780765;15592994;24596948 False 1 33;33;33 4.27 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A40 gene SLC25A40 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 4.27 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC52A2 gene SLC52A2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, 614707 False 1 0;0;100 4.27 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, 211530 False 1 0;0;100 4.27 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLIRP gene SLIRP Expert Review Red;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency 34426662 False 1 0;0;100 4.27 False ENSG00000119705 ENSG00000119705 HGNC:20495 SRRT gene SRRT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 0;0;100 4.27 False ENSG00000087087 ENSG00000087087 HGNC:24101 STAT2 gene STAT2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44, 616636 False 1 67;0;33 4.27 False ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLG2 gene SUCLG2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown None False 1 0;50;50 4.27 False ENSG00000172340 ENSG00000172340 HGNC:11450 TANGO2 gene TANGO2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 False 1 50;0;50 4.27 False ENSG00000183597 ENSG00000183597 HGNC:25439 TIMM44 gene TIMM44 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 0;67;33 4.27 True ENSG00000104980 ENSG00000104980 HGNC:17316 TMEM126A gene TMEM126A Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7, 612989 False 1 50;0;50 4.27 False ENSG00000171202 ENSG00000171202 HGNC:25382 TRAP1 gene TRAP1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;0;50 4.27 False ENSG00000126602 ENSG00000126602 HGNC:16264 UQCC1 gene UQCC1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000101019 ENSG00000101019 HGNC:15891 UQCR10 gene UQCR10 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000184076 ENSG00000184076 HGNC:30863 UQCR11 gene UQCR11 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000127540 ENSG00000127540 HGNC:30862 VPS13C gene VPS13C Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, 616840 False 1 50;0;50 4.27 False ENSG00000129003 ENSG00000129003 HGNC:23594 WFS1 gene WFS1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 6/14/38, 600965;Wolfram-like syndrome, autosomal dominant, 614296;Wolfram syndrome 1, 222300 False 1 0;0;100 4.27 False ENSG00000109501 ENSG00000109501 HGNC:12762 XPNPEP3 gene XPNPEP3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, 613159 False 1 50;0;50 4.27 False ENSG00000196236 ENSG00000196236 HGNC:28052