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 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8 MIM#614096;Leukoencephalopathy, progressive, with ovarian failure MIM#615889;MONDO:0013570 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30706699;27839525;21549344;25058219;24808023 False 3 100;0;0 0.969 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mtDNA depletion syndrome (MDS) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25738457;27903293 False 3 100;0;0 0.969 True ENSG00000183044 ENSG00000183044 HGNC:23 ABCB7 gene ABCB7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, with ataxia, MIM# 301310 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 10196363;10196363;33157103;31772327;31511561;26242992 False 3 100;0;0 0.969 True ENSG00000131269 ENSG00000131269 HGNC:48 ACAD9 gene ACAD9 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30025539 False 3 100;0;0 0.969 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;1972503;26223887 False 3 100;0;0 0.969 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADSB gene ACADSB Expert Review Green;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria MIM#610006 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;17945527 False 3 100;0;0 0.969 True ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency MIM#201475 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;8845838;29459657 False 3 100;0;0 0.969 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Alpha-methylacetoacetic aciduria MIM#203750" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31268215;25778941;1715688 False 3 100;0;0 0.969 True ENSG00000075239 ENSG00000075239 HGNC:93 ACO2 gene ACO2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, MIM#614559;Optic atrophy 9, MIM# 616289 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22405087;25351951;30689204;32519519;25351951;34056600 False 3 100;0;0 0.969 True ENSG00000100412 ENSG00000100412 HGNC:118 AFG3L2 gene AFG3L2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive (MIM#614487);Spinocerebellar ataxia 28 (MIM#610246);Optic atrophy 12, MIM# 618977 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29181157;26539208;30252181;30389403;32219868;32600459;32548275;20725928 False 3 100;0;0 0.969 True ENSG00000141385 ENSG00000141385 HGNC:315 AGK gene AGK Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000006530 ENSG00000006530 HGNC:21869 AIFM1 gene AIFM1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000156709 ENSG00000156709 HGNC:8768 AMACR gene AMACR Expert Review;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4, MIM# 214950;Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 35641312;35428665 False 3 100;0;0 0.969 True ENSG00000242110 ENSG00000242110 HGNC:451 APOPT1 gene APOPT1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25175347 False 3 100;0;0 0.969 True ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30986824;26256098 False 3 100;0;0 0.969 True ENSG00000137074 ENSG00000137074 HGNC:15984 ATAD3A gene ATAD3A Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, MIM# 617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27640307;32004445;28549128 False 3 100;0;0 0.969 True Other ENSG00000197785 ENSG00000197785 HGNC:25567 ATP5D gene ATP5D Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29478781 False 3 100;0;0 0.969 True ENSG00000099624 ENSG00000099624 HGNC:837 ATP5E gene ATP5E Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 20566710;27626380;20026007;34954817 False 3 50;50;0 0.969 True ENSG00000124172 ENSG00000124172 HGNC:838 ATP5O gene ATP5O Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34954817;35621276 False 3 100;0;0 0.969 True ENSG00000241837 ENSG00000241837 HGNC:850 BCS1L gene BCS1L Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000163170 ENSG00000163170 HGNC:24415 C12orf65 gene C12orf65 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, MIM#615035;Combined oxidative phosphorylation deficiency 7, MIM# 613559 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23188110;24080142;24198383;20598281;32808965;32478789;28804760 False 3 100;0;0 0.969 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf70 gene C19orf70 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 37, MIM# 618329" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29618761;27623147;27485409 False 3 100;0;0 0.969 True ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM# 617713 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28942965 False 3 100;0;0 0.969 True ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34038740;33945503 False 3 100;0;0 0.969 True ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000174990 ENSG00000174990 HGNC:1377 CARS2 gene CARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, MIM# 616672;MONDO:0014728 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25361775;25787132;30139652 False 3 100;0;0 0.969 True ENSG00000134905 ENSG00000134905 HGNC:25695 CHCHD10 gene CHCHD10 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911;Spinal muscular atrophy, Jokela type 615048;Myopathy, isolated mitochondrial, autosomal dominant 616209 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24934289;25428574;25193783;32042922;31690696;30877432;30874923;31261376 False 3 100;0;0 0.969 True Other ENSG00000250479 ENSG00000250479 HGNC:15559 CHCHD2 gene CHCHD2 Expert Review Green;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant MIM#616710 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32068847;25662902;31600778 False 3 100;0;0 0.969 True ENSG00000106153 ENSG00000106153 HGNC:21645 CHKB gene CHKB Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, congenital, megaconial type, MIM# 602541;Intellectual disability;Abnormal mitochondria" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 21665002;23692895;24997086 False 3 100;0;0 0.969 True ENSG00000100288 ENSG00000100288 HGNC:1938 CIAO1 gene CIAO1 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 38411040;38196629 False 3 100;0;0 0.969 True ENSG00000144021 ENSG00000144021 HGNC:14280 CISD2 gene CISD2 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2 MIM#604928 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29237418;28335035;27459537;26230298;17846994 False 3 100;0;0 0.969 True ENSG00000145354 ENSG00000145354 HGNC:24212 CLPB gene CLPB Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835;Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25597510;34140661 False 3 100;0;0 0.969 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000125656 ENSG00000125656 HGNC:2084 COA6 gene COA6 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501;Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24549041;25339201;31851937;26160915 False 3 100;0;0 0.969 True ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30885959;29718187 False 3 100;0;0 0.969 True ENSG00000162377 ENSG00000162377 HGNC:25716 COASY gene COASY Expert Review Green;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6 MIM#615643;Pontocerebellar hypoplasia, type 12 MIM#618266 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;24360804;30089828;28489334 False 3 100;0;0 0.969 True ENSG00000068120 ENSG00000068120 HGNC:29932 COQ2 gene COQ2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, MIM# 607426;MONDO:0011829 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 16400613;17332895;17855635 False 3 100;0;0 0.969 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276;Spastic ataxia 10, autosomal recessive, MIM# 620666 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25658047;26185144;33704555;36047608;38014483;38013626 False 3 100;0;0 0.969 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8 MIM#616733 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31240163 False 3 100;0;0 0.969 True ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 10767350;12928484;15455402;27290639 False 3 100;0;0 0.969 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX11-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36030551 False 3 100;0;0 0.969 True ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33746038;32232962;26959537;21412973;12474143;15235026 False 3 100;0;0 0.969 True ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24202787;31079202;30656193;23125284;32606554 False 3 100;0;0 0.969 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039;MONDO:0014467 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25152455;26302975;25152455 False 3 100;0;0 0.969 True ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31155743;23460811 False 3 100;0;0 0.969 True ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18499082;24781756 False 3 100;0;0 0.969 True ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000131174 ENSG00000131174 HGNC:2291 CPT1A gene CPT1A Expert Review Green;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA MIM#255120 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;12189492;23430932 False 3 100;0;0 0.969 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "CPT II deficiency, infantile MIM#600649;CPT II deficiency, lethal neonatal MIM#608836;CPT II deficiency, myopathic, stress-induced MIM#255110" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;12673791;30957255 False 3 100;0;0 0.969 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRLS1 gene CRLS1 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, MIM# 620167 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 35147173 False 3 100;0;0 0.969 True ENSG00000088766 ENSG00000088766 HGNC:16148 CYC1 gene CYC1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, MIM#612004 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18345000;24326104;30051457 False 3 100;0;0 0.969 True ENSG00000172115 ENSG00000172115 HGNC:19986 D2HGDH gene D2HGDH Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria MIM#600721 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;31349060;15609246;20020533 False 3 100;0;0 0.969 True ENSG00000180902 ENSG00000180902 HGNC:28358 DAP3 gene DAP3 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, DAP3-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 39701103 False 3 100;0;0 0.969 True ENSG00000132676 ENSG00000132676 HGNC:2673 DARS2 gene DARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000117593 ENSG00000117593 HGNC:25538 DGUOK gene DGUOK Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000114956 ENSG00000114956 HGNC:2858 DLAT gene DLAT Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000091140 ENSG00000091140 HGNC:2898 DNA2 gene DNA2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC19 gene DNAJC19 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC30 gene DNAJC30 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leber Hereditary Optic Neuropathy, MIM#619382 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 33465056 False 3 100;0;0 0.969 True ENSG00000176410 ENSG00000176410 HGNC:16410 DNM1L gene DNM1L Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482;Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482;Lethal congenital contracture syndrome 5, MIM# 615368" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000079805 ENSG00000079805 HGNC:2974 EARS2 gene EARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723;Combined oxidative phosphorylation deficiency 12 MIM#614924;leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22492562;23008233;25854774;26619324;26893310;27206875;27571996;27117034 False 3 100;0;0 0.969 True ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26000322;25393721;25125611;28409271;29575569;28755360;26099313 False 3 100;0;0 0.969 True ENSG00000127884 ENSG00000127884 HGNC:3151 ELAC2 gene ELAC2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, MIM#615440 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23849775;31045291 False 3 100;0;0 0.969 True ENSG00000006744 ENSG00000006744 HGNC:14198 ETFA gene ETFA Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA MIM#231680;Multiple acyl-CoA dehydrogenase deficiency (MADD) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 1882842;12815589 False 3 100;0;0 0.969 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB MIM#231680;Multiple acyl-CoA dehydrogenase deficiency (MADD) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 12815589;7912128 False 3 100;0;0 0.969 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC MIM#231680;Multiple acyl-CoA dehydrogenase deficiency (MADD) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 19249206;17412732 False 3 100;0;0 0.969 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000105755 ENSG00000105755 HGNC:23287 FARS2 gene FARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal combined oxidative phosphorylation defect type 14 MONDO:0013986;hereditary spastic paraplegia 77 MONDO:0014882 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30250868;30177229;29126765;28043061 False 3 100;0;0 0.969 True ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, MIM# 618855;FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18771761;28499982;31944455;34234304 False 3 100;0;0 0.969 True ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28940506 False 3 100;0;0 0.969 True ENSG00000112234 ENSG00000112234 HGNC:13601 FDX2 gene FDX2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900;inborn mitochondrial myopathy MONDO:0009637 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24281368;28803783;30010796;35079622;34905296 False 3 100;0;0 0.969 True ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM#617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30250212;28965846;29040572;33348459;37046037;37481223 False 3 100;0;0 0.969 True ENSG00000161513 ENSG00000161513 HGNC:3642 FH gene FH Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLAD1 gene FLAD1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000160688 ENSG00000160688 HGNC:24671 FOXRED1 gene FOXRED1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19 MIM#618241 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33613441 False 3 100;0;0 0.969 True ENSG00000110074 ENSG00000110074 HGNC:26927 FXN gene FXN Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, MIM# 229300 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 10500103;11351132 False 3 100;0;0 0.969 True ENSG00000165060 ENSG00000165060 HGNC:3951 GARS gene GARS Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), GARS1-related;Spinal muscular atrophy, infantile, James type, MIM# 619042;Charcot-Marie-Tooth disease, type 2D, MIM# 601472;Neuronopathy, distal hereditary motor, type VA, MIM# 600794;Multi-system mitochondrial disorder Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 17101916;22462675;31985473;32181591;12690580;25168514;26503042;29648643;16982418;24669931;28594869 False 3 100;0;0 0.969 True ENSG00000106105 ENSG00000106105 HGNC:4162 GCSH gene GCSH Expert Review;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33890291;36190515 False 3 100;0;0 0.969 True ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340;Charcot-Marie-Tooth disease, type 4A, MIM# 214400" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 16172208;21753178;21365284;20232219;11743580 False 3 100;0;0 0.969 True ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28155230 False 3 100;0;0 0.969 True ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM #618397 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22700954;26016410;29075935 False 3 100;0;0 0.969 True ENSG00000164347 ENSG00000164347 HGNC:29682 GLRX5 gene GLRX5 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000182512 ENSG00000182512 HGNC:20134 GPD1 gene GPD1 Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial shuttles and carriers;transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;35988808;24549054 False 3 0;0;0 0.969 False ENSG00000167588 ENSG00000167588 HGNC:4455 GTPBP3 gene GTPBP3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, MIM#616198 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34276756;25434004 False 3 100;0;0 0.969 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUK1 gene GUK1 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 39230499 False 3 100;0;0 0.969 True ENSG00000143774 ENSG00000143774 HGNC:4693 HADH gene HADH Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;23430856;27771675;11489939 False 3 100;0;0 0.969 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency MIM#609016;Trifunctional protein deficiency MIM#609015 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;7811722;29459657 False 3 100;0;0 0.969 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency MIM#609015 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;30682426;9259266;29956646 False 3 100;0;0 0.969 True ENSG00000138029 ENSG00000138029 HGNC:4803 HARS2 gene HARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31827252 False 3 100;0;0 0.969 True ENSG00000112855 ENSG00000112855 HGNC:4817 HCCS gene HCCS Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000004961 ENSG00000004961 HGNC:4837 HIBCH gene HIBCH Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, MIM# 253270 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency MIM#246450 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;11129331;19036343 False 3 100;0;0 0.969 True ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency MIM#605911 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;9337379;23751782 False 3 100;0;0 0.969 True ENSG00000134240 ENSG00000134240 HGNC:5008 HPDL gene HPDL Expert Review;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32707086 False 3 100;0;0 0.969 True ENSG00000186603 ENSG00000186603 HGNC:28242 HSD17B10 gene HSD17B10 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSPA9 gene HSPA9 Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal even-plus syndrome MONDO:0014801;Disorders of mitochondrial protein quality control Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;21123823;26598328 False 3 0;0;0 0.969 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII, MIM# 617248" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27208207;27696117 False 3 100;0;0 0.969 True ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23462291;25971455;27785568;28671726;28913435 False 3 100;0;0 0.969 True ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 Expert Review Green;Literature;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted D-2-hydroxyglutaric aciduria 2 MIM#613657 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;27142242;20847235;24049096 False 3 100;0;0 0.969 True ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3A gene IDH3A Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, MIM#619007 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31012789;30478029;30058936;28412069 False 3 100;0;0 0.969 True ENSG00000166411 ENSG00000166411 HGNC:5384 ISCA1 gene ISCA1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 0.969 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25539947;29297947;29122497;29359243 False 3 100;0;0 0.969 True ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000136003 ENSG00000136003 HGNC:29882 KARS gene KARS Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000065427 ENSG00000065427 HGNC:6215 KIAA0391 gene KIAA0391 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 54, MIM# 619737" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 34715011 False 3 100;0;0 0.969 True ENSG00000100890 ENSG00000100890 HGNC:19958 L2HGDH gene L2HGDH Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial metabolite repair;L-2-hydroxyglutaric aciduria MONDO:0009370 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;37995940 False 3 0;0;0 0.969 False ENSG00000087299 ENSG00000087299 HGNC:20499 LARS2 gene LARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36055214 False 3 100;0;0 0.969 True ENSG00000168924 ENSG00000168924 HGNC:6556 LIAS gene LIAS Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 33855352 False 3 100;0;0 0.969 True ENSG00000005156 ENSG00000005156 HGNC:6600 LIPT1 gene LIPT1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency, MIM#616299;Leigh-like presentation Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000175536 ENSG00000175536 HGNC:37216 LONP1 gene LONP1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, MIM#600373;Mitochondrial cytopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31636596 False 3 100;0;0 0.969 True ENSG00000196365 ENSG00000196365 HGNC:9479 LRPPRC gene LRPPRC Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM7 gene LYRM7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000186687 ENSG00000186687 HGNC:28072 MDH2 gene MDH2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282;MONDO:0015003 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27817865;33401012;31137067;31070877 False 3 100;0;0 0.969 True ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11, MIM# 615084 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23313956;29572490;28711739 False 3 100;0;0 0.969 True ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, MIM# 615673 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24336167;29721912;32395406 False 3 100;0;0 0.969 True ENSG00000107745 ENSG00000107745 HGNC:1530 MIPEP gene MIPEP Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 31, MIM# 617228" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27799064 False 3 100;0;0 0.969 True ENSG00000027001 ENSG00000027001 HGNC:7104 MORC2 gene MORC2 Expert Review Green;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090;Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688. Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 32693025 False 3 50;0;50 0.969 True ENSG00000133422 ENSG00000133422 HGNC:23573 MPC1 gene MPC1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, MIM# 614741 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22628558;34873722 False 3 100;0;0 0.969 True ENSG00000060762 ENSG00000060762 HGNC:21606 MPV17 gene MPV17 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRM2 gene MRM2 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 17, MIM# 618567" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28973171;36002240 False 3 100;0;0 0.969 True ENSG00000122687 ENSG00000122687 HGNC:16352 MRPL3 gene MRPL3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9;OMIM #614582 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27815843;21786366 False 3 100;0;0 0.969 True ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL39 gene MRPL39 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 37133451 False 3 100;0;0 0.969 True ENSG00000154719 ENSG00000154719 HGNC:14027 MRPL44 gene MRPL44 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 16, MIM# 615395 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23315540;25797485 False 3 100;0;0 0.969 True ENSG00000135900 ENSG00000135900 HGNC:16650 MRPL49 gene MRPL49 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MRPL49-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 39417135 False 3 100;0;0 0.969 True ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS2 gene MRPS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36, MIM# 617950 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29576219;34991560 False 3 100;0;0 0.969 True ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5, MIM# 611719 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 17873122;25663021;28752220 False 3 100;0;0 0.969 True ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS23 gene MRPS23 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hepatic disease;Combined respiratory chain complex deficiencies;Cardiomyopathy;Tubulopathy;Lactic acidosis;Structural brain abnormalities;Combined oxidative phosphorylation deficiency 46, MIM618952 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26741492;17873122;25663021;28752220 False 3 100;0;0 0.969 True ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS34 gene MRPS34 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32, MIM# 617664 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28777931 False 3 100;0;0 0.969 True ENSG00000074071 ENSG00000074071 HGNC:16618 MSTO1 gene MSTO1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Myopathy, mitochondrial, and ataxia, MIM# 617675" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28554942;28544275;31604776;31463572;31130378;30684668;29339779 False 3 100;0;0 0.969 True ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial complex V (ATP synthase) deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Leber's optic atrophy;Sideroblastic anaemia;Cytochrome c oxidase deficiency;Myoglobinuria Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Cytochrome c oxidase deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green;Literature Mitochondrial disease Metabolic disorders MITOCHONDRIAL Leigh syndrome;Leigh-like syndrome;Myopathy;Encephalopathy and myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 20525945;9634511;11063732;12414820 False 3 100;0;0 0.969 True ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Leber's optic atrophy;Encephalomyopathy;Cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, MIM# 614947;Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 21907147;23499752;24461907;22499348 False 3 100;0;0 0.969 True ENSG00000103707 ENSG00000103707 HGNC:29666 MT-ND1 gene MT-ND1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy;Deafness;Dystonia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Complex I deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy;Dystonia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Leber's optic atrophy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy;MERFF Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial cardiomyopathy complex I deficiency;Leber's optic neuropathy;MELAS;Dystonia;Striatal necrosis, bilateral Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, OMIM #614702 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26061759;29331171;23929671 False 3 100;0;0 0.969 True ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 4, autosomal recessive 613672;Lethal encephalopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 20970105;25008111;26319014;31779033 False 3 50;50;0 0.969 True ENSG00000107951 ENSG00000107951 HGNC:25532 MT-RNR1 gene MT-RNR1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Deafness;Cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 20301595 False 3 100;0;0 0.969 True ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TA gene MT-TA Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MELAS;Dystonia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy;Deafness;Diabetes Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MELAS;MERFF;Encephalopathy;Myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Dilated cardiomyopathy;Retinopathy;Deafness;MELAS;MERFF Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy;Encephalopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MERRF;Encephalopathy;Deafness;Cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MELAS Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Myopathy;Cardiomyopathy;Encephalomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210135 ENSG00000210135 HGNC:7493 MT-TP gene MT-TP Expert list;Expert Review Green;Expert Review Red Mitochondrial disease Metabolic disorders MITOCHONDRIAL MERRF;myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MELAS;deafness;mitochondrial myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Encephalomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MERRF;MELAS;Deafness Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL MERRF;MELAS;Cerebellar ataxia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Ataxia;Seizures;Deafness Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Encephalomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert list;Expert Review Green Mitochondrial disease Metabolic disorders MITOCHONDRIAL Progressive external ophthalmoplegia;Cardiomyopathy;Myopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000210144 ENSG00000210144 HGNC:7502 NADK2 gene NADK2 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "2,4-dienoyl-CoA reductase deficiency, MIM# 616034" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24847004;29388319;27940755 False 3 100;0;0 0.969 True ENSG00000152620 ENSG00000152620 HGNC:26404 NARS2 gene NARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24 - MIM#616239;Deafness, autosomal recessive 94 - MIM#618434 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25385316;25807530;30327238;28077841 False 3 100;0;0 0.969 True ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30576410 False 3 100;0;0 0.969 True ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27122014;27616477;31758406 False 3 100;0;0 0.969 True ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 21150889;26741492;28247337 False 3 100;0;0 0.969 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA12 gene NDUFA12 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23 618244 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 21617257;33715266 False 3 50;0;50 0.969 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25901006;32722639 False 3 50;50;0 0.969 True ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28857146;32154054;18513682 False 3 100;0;0 0.969 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome;Complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30361421;28988874;23746447 False 3 100;0;0 0.969 True ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30245030 False 3 100;0;0 0.969 True ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA9 gene NDUFA9 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28671271 False 3 100;0;0 0.969 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 17557076;21931170;16218961;24963768;34975718 False 3 100;0;0 0.969 True ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33528536;34364746;16200211;19384974;20571988 False 3 100;0;0 0.969 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27986404;29344937;19463981 False 3 100;0;0 0.969 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32949790;28853723 False 3 100;0;0 0.969 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30642748 False 3 100;0;0 0.969 True ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31866046 False 3 100;0;0 0.969 True ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal fatal infantile lactic acidosis;cardiomyopathy;Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28040730;32025618;33169436 False 3 50;50;0 0.969 True ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders 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 3, XLD (MIM#300952);MONDO:0010494;Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021);MONDO:0026721 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28050600;27488349;30423443;27488349 False 3 100;0;0 0.969 True ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246;MONDO:0032629 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22499348;27091925 False 3 100;0;0 0.969 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29429571 False 3 100;0;0 0.969 True ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFS1 gene NDUFS1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33751534;24952175;20382551;21203893;20797884;15824269;25615419;11349233;22399432 False 3 100;0;0 0.969 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28031252;31411514;22036843;20819849;11220739;23266820;31411514 False 3 100;0;0 0.969 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22499348;30140060;14729820;33097395 False 3 100;0;0 0.969 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010;Leigh syndrome, MIM#252010 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 10944442;27079373;19107570;12616398 False 3 100;0;0 0.969 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 15372108;19259137;30948790 False 3 100;0;0 0.969 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 12754703;19167255;26008862;30770271;33811136;34405929 False 3 67;33;0 0.969 True ENSG00000178127 ENSG00000178127 HGNC:7717 NFS1 gene NFS1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, MIM#619386;Complex II/III deficiency;multisystem organ failure Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24498631;33457206 False 3 50;0;50 0.969 True ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 21944046;22077971;32747156;29441221 False 3 100;0;0 0.969 True ENSG00000169599 ENSG00000169599 HGNC:16287 NUBPL gene NUBPL Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 20818383;32518176;23553477;31917109;32518176;31787496;30897263;22826544 False 3 100;0;0 0.969 True ENSG00000151413 ENSG00000151413 HGNC:20278 OGDH gene OGDH Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Oxoglutarate dehydrogenase deficiency, MIM# 203740;Developmental delay;ataxia;seizure;raised lactate Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32383294 False 3 50;50;0 0.969 True ENSG00000105953 ENSG00000105953 HGNC:8124 OPA1 gene OPA1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR;Optic atrophy 3 with cataract (MIM#165300), AD Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25159689;31119193;31928268 False 3 100;0;0 0.969 True ENSG00000125741 ENSG00000125741 HGNC:8142 OXCT1 gene OXCT1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;10964512;8751852;23420214 False 3 100;0;0 0.969 True ENSG00000083720 ENSG00000083720 HGNC:8527 PAM16 gene PAM16 Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223;Disorders of mitochondrial protein import Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;24786642;35385740;36438081 False 3 0;0;0 0.969 False ENSG00000217930 ENSG00000217930 HGNC:29679 PANK2 gene PANK2 Expert Review Green;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HARP syndrome MIM#607236;Neurodegeneration with brain iron accumulation 1 MIM#234200 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;11479594;12510040;28863176 False 3 100;0;0 0.969 True ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 75, MIM# 618437 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29410512;28077841;25629079;29915213 False 3 100;0;0 0.969 True ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pyruvate carboxylase deficiency, MIM# 266150" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000173599 ENSG00000173599 HGNC:8636 PDE12 gene PDE12 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, PDE12-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 39567835 False 3 100;0;0 0.969 True ENSG00000174840 ENSG00000174840 HGNC:25386 PDHA1 gene PDHA1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDK3 gene PDK3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders 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, MIM# 300905 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23297365;28902413;26801680 False 3 100;0;0 0.969 True ENSG00000067992 ENSG00000067992 HGNC:8811 PDP1 gene PDP1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2 MIM#614651 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 17332895;22494076;33285023 False 3 100;0;0 0.969 True ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24462369;25293719;31406627 False 3 100;0;0 0.969 True ENSG00000229833 ENSG00000229833 HGNC:40038 PINK1 gene PINK1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, MIM# 605909 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27604308;15087508;16207731;18003639;18524835 False 3 100;0;0 0.969 True ENSG00000158828 ENSG00000158828 HGNC:14581 PITRM1 gene PITRM1 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-30 (SCAR30), MIM#619405;intellectual disability;cognitive decline;psychosis Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26697887;29764912 False 3 100;0;0 0.969 True ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Infantile neuroaxonal dystrophy 1 MIM#256600;Neurodegeneration with brain iron accumulation 2B MIM#610217;Parkinson disease 14, autosomal recessive MIM#612953" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25348461;26001724;26506412;30528460;16783378 False 3 100;0;0 0.969 True ENSG00000184381 ENSG00000184381 HGNC:9039 PMPCA gene PMPCA Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNPLA8 gene PNPLA8 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related;Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29681094;25512002 False 3 100;0;0 0.969 True ENSG00000135241 ENSG00000135241 HGNC:28900 PNPT1 gene PNPT1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13 (MIM#614932);Deafness, autosomal recessive 70 (MIM#614934) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31752325;28645153 False 3 67;33;0 0.969 True ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131;Mitochondrial DNA depletion syndrome 16 , MIM# 618528 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 16685652;21555342;27592148;31778857 False 3 100;0;0 0.969 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLRMT gene POLRMT Expert Review Green;Literature Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, MIM# 619743;intellectual disability;hypotonia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33602924 False 3 100;0;0 0.969 True ENSG00000099821 ENSG00000099821 HGNC:9200 PPA2 gene PPA2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPCS gene PPCS Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2C, MIM# 618189 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29754768;35616428 False 3 50;50;0 0.969 True ENSG00000127125 ENSG00000127125 HGNC:25686 PPOX gene PPOX Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Porphyria variegata MIM#176200" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;9811936;12859407;30476629 False 3 100;0;0 0.969 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRDX3 gene PRDX3 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia (early onset, mild to moderate, progressive) Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33889951 False 3 100;0;0 0.969 True ENSG00000165672 ENSG00000165672 HGNC:9354 PRKN gene PRKN Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial protein quality control;Parkinson disease MONDO:0005180 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;38069350 False 3 0;0;0 0.969 False ENSG00000185345 ENSG00000185345 HGNC:8607 PTCD3 gene PTCD3 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-51, MIM#619057;Mental retardation;optic atrophy;Leigh-like syndrome Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30607703;19427859;36450274 False 3 50;50;0 0.969 True ENSG00000132300 ENSG00000132300 HGNC:24717 PTPMT1 gene PTPMT1 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inborn mitochondrial metabolism disorder MONDO:0004069 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 39279645;37672386 False 3 100;0;0 0.969 True ENSG00000110536 ENSG00000110536 HGNC:26965 PTRH2 gene PTRH2 Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Miscellaneous disorders associated with mitochondrial dysfunction;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;37239392 False 3 0;0;0 0.969 False ENSG00000141378 ENSG00000141378 HGNC:24265 PUS1 gene PUS1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 0.969 True ENSG00000177192 ENSG00000177192 HGNC:15508 QARS gene QARS Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28620870;25471517;25432320;25041233;24656866;32042906 False 3 100;0;0 0.969 True ENSG00000172053 ENSG00000172053 HGNC:9751 QRSL1 gene QRSL1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26741492;29440775;30283131;30642647 False 3 100;0;0 0.969 True ENSG00000130348 ENSG00000130348 HGNC:21020 RANBP2 gene RANBP2 Expert Review;Expert Review Green Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000153201 ENSG00000153201 HGNC:9848 RARS2 gene RARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 50;0;50 0.969 False ENSG00000146282 ENSG00000146282 HGNC:21406 RMND1 gene RMND1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18835491;23022099;23022098;25604853;26395190 False 3 100;0;0 0.969 True ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ribosomal biogenesis;cartilage-hair hypoplasia MONDO:0009595 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;38337186 False 3 0;0;0 0.969 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH1 gene RNASEH1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26094573;31258551 False 3 100;0;0 0.969 True ENSG00000171865 ENSG00000171865 HGNC:18466 RNF213 gene RNF213 Expert Review Green;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease, MONDO:0016820;pediatric arterial ischemic stroke, MONDO:0018585 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 37924258 False 3 100;0;0 0.969 True ENSG00000173821 ENSG00000173821 HGNC:14539 RRM2B gene RRM2B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000130347 ENSG00000130347 HGNC:18647 SACS gene SACS Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22307627;20876471 False 3 100;0;0 0.969 True ENSG00000151835 ENSG00000151835 HGNC:10519 SARS2 gene SARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCO1 gene SCO1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 11013136;19295170;31352446;23878101 False 3 100;0;0 0.969 True ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 50;50;0 0.969 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 19465911;26749241;22995659 False 3 100;0;0 0.969 True ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224;Complex II deficiency;mitochondrial leucoencephalopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22972948;26925370;27604842 False 3 100;0;0 0.969 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24367056;26008905 False 3 100;0;0 0.969 True ENSG00000204370 ENSG00000204370 HGNC:10683 SERAC1 gene SERAC1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000122335 ENSG00000122335 HGNC:21061 SFXN4 gene SFXN4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000183605 ENSG00000183605 HGNC:16088 SHMT2 gene SHMT2 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121;Congenital microcephaly;Infantile axial hypotonia;Spastic paraparesis;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum;Abnormal cortical gyration;Hypertrophic cardiomyopathy;Abnormality of the face;Proximal placement of thumb;2-3 toe syndactyly Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33015733 False 3 100;0;0 0.969 True ENSG00000182199 ENSG00000182199 HGNC:10852 SLC19A2 gene SLC19A2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 Expert Review Green;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary MIM#212140 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 9916797;25778941;17884651 False 3 100;0;0 0.969 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39, MIM# 612949 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 19641205;24515575;35008954;32700846;31766059;31514314 False 3 100;0;0 0.969 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A19 gene SLC25A19 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency MIM#212138 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 9399886;31108048;25778941 False 3 100;0;0 0.969 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A24 gene SLC25A24 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Fontaine progeroid syndrome MIM#612289" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29100094;29100093 False 3 100;0;0 0.969 True ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28, MIM# 616794 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26522469 False 3 100;0;0 0.969 True ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, MIM# 610773 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 17273968;21763135;25681081 False 3 100;0;0 0.969 True ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exercise intolerance, riboflavin-responsive, MIM# 616839 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26933868;28443623 False 3 100;0;0 0.969 True ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A36 gene SLC25A36 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34971397;34576089;31036718 False 3 100;0;0 0.969 True ENSG00000114120 ENSG00000114120 HGNC:25554 SLC25A38 gene SLC25A38 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 19412178 False 3 100;0;0 0.969 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30046662;30013777;29654543;28823815 False 3 100;0;0 0.969 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26541337;29327420;29923093;34258143 False 3 100;0;0 0.969 True ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505;Pontocerebellar hypoplasia, type 1E, MIM# 619303 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30178502;26168012;27543974;27430653;27390132;28934388;28558379 False 3 100;0;0 0.969 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29053833;29193829 False 3 100;0;0 0.969 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29053833;29193829 False 3 100;0;0 0.969 True ENSG00000101276 ENSG00000101276 HGNC:16187 SPATA5 gene SPATA5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30009132;29343804 False 3 100;0;0 0.969 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPG7 gene SPG7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, MIM# 607259;Autosomal dominant optic atrophy, MONDO:0020250 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 9635427;9635427;16534102;18799786;22571692;34500365;33598982;32548275;24727571 False 3 100;0;0 0.969 True ENSG00000197912 ENSG00000197912 HGNC:11237 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy with or without extraocular phenotypes;Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31298765;31479473;31550237;31550240 False 3 100;0;0 0.969 True ENSG00000106028 ENSG00000106028 HGNC:11317 STAT2 gene STAT2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44, MIM# 616636 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23391734;26122121 False 3 100;0;0 0.969 True ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLA2 gene SUCLA2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 19503089;20727754;25044680;27319982 False 3 100;0;0 0.969 True ENSG00000136463 ENSG00000136463 HGNC:24316 TAMM41 gene TAMM41 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139;hypotonia;developmental delay;myopathy;ptosis Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 35321494;29253589 False 3 100;0;0 0.969 True ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert Review;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 True ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, MIM# 615918 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24827421;26811336;33153448;34508595 False 3 50;50;0 0.969 True ENSG00000143374 ENSG00000143374 HGNC:30740 TAZ gene TAZ Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000102125 ENSG00000102125 HGNC:11577 TEFM gene TEFM Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, MIM# 620451 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36823193 False 3 100;0;0 0.969 True ENSG00000172171 ENSG00000172171 HGNC:26223 TFAM gene TFAM Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27448789;29021295;9500544;32399598;34647195;34647195 False 3 50;50;0 0.969 True ENSG00000108064 ENSG00000108064 HGNC:11741 TIMM50 gene TIMM50 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, MIM# 617698 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27573165;32369862;30190335;31058414 False 3 100;0;0 0.969 True ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert Review Green;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28604674;30981218 False 3 33;67;0 0.969 True ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 11687801;12391347;12873860;35286480;35280287;35094997 False 3 100;0;0 0.969 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126A gene TMEM126A Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of complex I subunits and assembly factors;autosomal recessive optic atrophy, OPA7 type MONDO:0013069 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;33879611 False 3 0;0;0 0.969 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM126B gene TMEM126B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27374774;27374773 False 3 100;0;0 0.969 True ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM70 gene TMEM70 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000175606 ENSG00000175606 HGNC:26050 TOP3A gene TOP3A Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30057030;33631320;29290614 False 3 100;0;0 0.969 True ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000196511 ENSG00000196511 HGNC:17358 TRAK1 gene TRAK1 Expert list;Expert Review Green Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 68, MIM# 618201 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28940097;28364549;29846532;28924745 False 3 100;0;0 0.969 True ENSG00000182606 ENSG00000182606 HGNC:29947 TRIT1 gene TRIT1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, MIM#617873 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32088416;24901367;28185376;30977854 False 3 100;0;0 0.969 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 26, MIM# 616539 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26189817;35342985;35109800;29021354 False 3 100;0;0 0.969 True ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000072756 ENSG00000072756 HGNC:17341 TSFM gene TSFM Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000011295 ENSG00000011295 HGNC:26006 TUFM gene TUFM Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, OMIM #610678;MONDO:0012534 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28132884;26741492;17160893;30903008 False 3 100;0;0 0.969 True ENSG00000178952 ENSG00000178952 HGNC:12420 TWNK gene TWNK Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245;Perrault syndrome 5 616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32234020;18593709 False 3 100;0;0 0.969 True ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 9924029;14757860;21933806 False 3 100;0;0 0.969 True ENSG00000025708 ENSG00000025708 HGNC:3148 UQCC2 gene UQCC2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23281071;28275242;12709789;25446085;23454382 False 3 100;0;0 0.969 True ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28275242;23281071;33865955 False 3 50;50;0 0.969 True ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Complex III deficiency;lactic acidosis;fetal bradycardia;hypertrophic cardiomyopathy;alopecia totalis Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31883641 False 3 100;0;0 0.969 True ENSG00000169021 ENSG00000169021 HGNC:12587 VARS2 gene VARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20;OMIM #615917 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24827421;25058219;29137650;29314548;31064326;31623496 False 3 100;0;0 0.969 True ENSG00000137411 ENSG00000137411 HGNC:21642 VCP gene VCP Expert Review Green Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507;Disorders of mitochondrial protein quality control Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29884839;35273561;37678339 False 3 0;0;0 0.969 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS13C gene VPS13C Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Early-onset Parkinson disease-23, MIM# 616840 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26942284 False 3 100;0;0 0.969 True ENSG00000129003 ENSG00000129003 HGNC:23594 WARS2 gene WARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders Unknown Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 False 3 100;0;0 0.969 False ENSG00000116874 ENSG00000116874 HGNC:12730 YARS2 gene YARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561;sideroblastic anaemia;muscle atrophy;myopathy;lactic acidosis;Hypertrophic cardiomyopathy;Hepatomegaly;Decreased cytochrome C oxidase activity Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24430573;24344687 False 3 100;0;0 0.969 True ENSG00000139131 ENSG00000139131 HGNC:24249 ACADS gene ACADS Expert Review Amber;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;2808706;29678161 False 2 50;50;0 0.969 True ENSG00000122971 ENSG00000122971 HGNC:90 APOO gene APOO Expert Review Amber;Literature Mitochondrial disease Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial disease, MONDO:0044970, APOO-related;Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32439808;37649161 False 2 0;67;33 0.969 True ENSG00000184831 ENSG00000184831 HGNC:28727 ATP5A1 gene ATP5A1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228;Mitochondrial disorder, autosomal dominant Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23599390;34483339 False 2 0;100;0 0.969 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited dystonia, MONDO:0044807, ATP5B-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36860166;36239646 False 2 0;100;0 0.969 True ENSG00000110955 ENSG00000110955 HGNC:830 CEP89 gene CEP89 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23575228 False 2 0;0;100 0.969 True ENSG00000121289 ENSG00000121289 HGNC:25907 CMPK2 gene CMPK2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36443312 False 2 0;100;0 0.969 True ENSG00000134326 ENSG00000134326 HGNC:27015 COX14 gene COX14 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22243966 False 2 0;100;0 0.969 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355;Hypertrophic cardiomyopathy;encephalopathy;severe fatal lactic acidosis Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33169484 False 2 0;100;0 0.969 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX4I1 gene COX4I1 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060;regression;seizures;short stature;mild dysmorphic features;Fanconi anemia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28766551;22592081;31290619 False 2 0;50;50 0.969 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064;pulmonary arterial hypertension;lactic acidemia;failure to thrive;isolated complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28247525;35246835 False 2 0;50;50 0.969 True ENSG00000178741 ENSG00000178741 HGNC:2267 CRAT gene CRAT Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29395073;31448845 False 2 0;100;0 0.969 True ENSG00000095321 ENSG00000095321 HGNC:2342 ERAL1 gene ERAL1 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28449065 False 2 0;100;0 0.969 True ENSG00000132591 ENSG00000132591 HGNC:3424 EXOSC3 gene EXOSC3 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 1B 614678;Intellectual disability;Microcephaly;Hypotonia;Mitochondrial dysfunction" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28687512 False 2 0;100;0 0.969 True ENSG00000107371 ENSG00000107371 HGNC:17944 IDH3B gene IDH3B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, MIM# 612572 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18806796;31736247 False 2 0;100;0 0.969 True ENSG00000101365 ENSG00000101365 HGNC:5385 LYRM4 gene LYRM4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, MIM# 615595 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23814038;31497476 False 2 0;100;0 0.969 True ENSG00000214113 ENSG00000214113 HGNC:21365 MARS2 gene MARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25754315 False 2 0;100;0 0.969 True ENSG00000247626 ENSG00000247626 HGNC:25133 MPC2 gene MPC2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36417180 False 2 0;100;0 0.969 True ENSG00000143158 ENSG00000143158 HGNC:24515 MRPL50 gene MRPL50 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 37148394 False 2 0;100;0 0.969 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS14 gene MRPS14 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 38, MIM# 618378" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30358850 False 2 0;100;0 0.969 True ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Australian Genomcis Health Alliance Leukodystrophy Flagship;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28749478;15505824 False 2 0;0;100 0.969 True ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25556185;36421788 False 2 0;50;50 0.969 True ENSG00000125445 ENSG00000125445 HGNC:14499 NDUFA11 gene NDUFA11 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18306244;31074871 False 2 0;100;0 0.969 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272;Developmental delay;microcehaly;seizures Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32385911;33153867 False 2 0;100;0 0.969 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFB7 gene NDUFB7 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital lactic acidosis;hypertrophic cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33502047;27626371 False 2 0;100;0 0.969 True ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB9 gene NDUFB9 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22200994;38129218 False 2 0;100;0 0.969 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC2 gene NDUFC2 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32969598 False 2 0;100;0 0.969 True ENSG00000151366 ENSG00000151366 HGNC:7706 NNT gene NNT Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26309815;22634753 False 2 67;33;0 0.969 True ENSG00000112992 ENSG00000112992 HGNC:7863 NSUN3 gene NSUN3 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, MIM# 619012 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27356879;32488845 False 2 0;100;0 0.969 True ENSG00000178694 ENSG00000178694 HGNC:26208 OXA1L gene OXA1L Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy;hypotonia;developmental delay Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30201738 False 2 0;100;0 0.969 True ENSG00000155463 ENSG00000155463 HGNC:8526 P4HTM gene P4HTM Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25078763;30940925;34285383 False 2 0;100;0 0.969 True ENSG00000178467 ENSG00000178467 HGNC:28858 RRM1 gene RRM1 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 35617047 False 2 0;100;0 0.969 True ENSG00000167325 ENSG00000167325 HGNC:10451 SLC25A10 gene SLC25A10 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intractable epileptic encephalopathy;Mitochondrial DNA depletion syndrome 19, MIM# 618972 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29211846 False 2 0;100;0 0.969 True ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome-18 MIM#618811 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29517768 False 2 0;100;0 0.969 True ENSG00000183032 ENSG00000183032 HGNC:14411 SLC39A8 gene SLC39A8 Expert Review Amber;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIn MIM#616721" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29453449;27995398 False 2 50;50;0 0.969 True ENSG00000138821 ENSG00000138821 HGNC:20862 SQOR gene SQOR Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh-like disorder;Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32160317 False 2 0;100;0 0.969 True ENSG00000137767 ENSG00000137767 HGNC:20390 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypotonia;gastroesophageal reflux disease Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30452684 False 2 0;100;0 0.969 True ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28295037 False 2 0;100;0 0.969 True ENSG00000164983 ENSG00000164983 HGNC:25203 TOMM7 gene TOMM7 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, MIM# 620601 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36299998;36282599 False 2 0;100;0 0.969 True ENSG00000196683 ENSG00000196683 HGNC:21648 TOMM70 gene TOMM70 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Severe anaemia;Lactic acidosis;Developmental delay Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31907385 False 2 0;100;0 0.969 True ENSG00000154174 ENSG00000154174 HGNC:11985 TXN2 gene TXN2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 29, MIM# 616811 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26626369;12529397 False 2 0;100;0 0.969 True ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC3 gene UQCC3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25008109;28804536 False 2 0;100;0 0.969 True ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRH gene UQCRH Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34750991 False 2 0;100;0 0.969 True ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18439546 False 2 0;100;0 0.969 True ENSG00000164405 ENSG00000164405 HGNC:29594 USMG5 gene USMG5 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29917077;30240627 False 2 0;100;0 0.969 True ENSG00000173915 ENSG00000173915 HGNC:30889 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30544562;27495975 False 2 0;100;0 0.969 True ENSG00000136758 ENSG00000136758 HGNC:12843