Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy PMID: 21549344;25058219 False 3 100;0;0 9.54 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mtDNA depletion syndrome;613163 Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 False 3 67;0;33 9.54 True ENSG00000183044 ENSG00000183044 HGNC:23 ABCB7 gene ABCB7 Expert;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of iron homeostasis;Anemia, sideroblastic, with ataxia;congenital cerebellar hypoplasia/atrophy (PMID: 26242992). PMID: 26242992;22398176;17192398 False 3 100;0;0 9.54 False ENSG00000131269 ENSG00000131269 HGNC:48 ACAD9 gene ACAD9 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;ACAD9 deficiency, 611126;Mitochondrial complex I deficiency due to ACAD9 deficiency PMID:17564966;21057504 False 3 100;0;0 9.54 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACO2 gene ACO2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 100;0;0 9.54 True ENSG00000100412 ENSG00000100412 HGNC:118 AFG3L2 gene AFG3L2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 100;0;0 9.54 True ENSG00000141385 ENSG00000141385 HGNC:315 AGK gene AGK Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, 212350;Mitochondrial DNA depletion syndrome 10;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Disorders of mitochondrial lipid metabolism;Cataract 38, autosomal recessive, 614691 False 3 100;0;0 9.54 True ENSG00000006530 ENSG00000006530 HGNC:21869 AIFM1 gene AIFM1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial apoptosis;Combined oxidative phosphorylation deficiency 6, 300816;Cowchock syndrome, 310490 PMID: 20362274 (two related males);PMID: 23217327 False 3 100;0;0 9.54 True ENSG00000156709 ENSG00000156709 HGNC:8768 APOPT1 gene APOPT1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061;Isolated complex IV deficiency False 3 100;0;0 9.54 True ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920;Ataxia with oculomotor apraxia 1 False 3 50;0;50 9.54 True ENSG00000137074 ENSG00000137074 HGNC:15984 ATAD3A gene ATAD3A Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810 27640307 False 3 50;50;0 9.54 True ENSG00000197785 ENSG00000197785 HGNC:25567 ATP5A1 gene ATP5A1 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 23596069;23599390;34483339;34954817 False 3 75;25;0 9.54 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5D gene ATP5D Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 29478781 False 3 0;0;0 9.54 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP5E gene ATP5E Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053;mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 20566710;25954304;34954817 False 3 100;0;0 9.54 True ENSG00000124172 ENSG00000124172 HGNC:838 ATP5G3 gene ATP5G3 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 34636445;34954817 False 3 67;33;0 9.54 True ENSG00000154518 ENSG00000154518 HGNC:843 ATP5O gene ATP5O Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 34954817;35621276 False 3 67;33;0 9.54 True ENSG00000241837 ENSG00000241837 HGNC:850 ATPAF2 gene ATPAF2 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex V deficiency;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;Mitochondrial Diseases 14757859;19933271 False 3 50;50;0 9.54 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCS1L gene BCS1L Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000;Bjornstad syndrome, 262000;GRACILE syndrome, 603358;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex III Deficiency False 3 100;0;0 9.54 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of iron homeostasis;Multiple mitochondrial dysfunctions syndrome 2, 614299;Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366);Multiple Mitochondrial Dysfunctions Syndrome False 3 100;0;0 9.54 True ENSG00000163170 ENSG00000163170 HGNC:24415 BTD gene BTD Expert Review;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, OMIM:253260;biotinidase deficiency, MONDO:0009665 False 3 25;50;25 9.54 True ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035 False 3 100;0;0 9.54 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf70 gene C19orf70 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, 618329 29618761;27485409;27623147 False 3 0;0;0 9.54 False ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM#617713 28942965 False 3 100;0;0 9.54 True ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 9.54 False ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 26913920;24530203 False 3 0;0;0 9.54 False ENSG00000174990 ENSG00000174990 HGNC:1377 CARS2 gene CARS2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27 616672;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype 25361775;25787132;30139652 False 3 100;0;0 9.54 False ENSG00000134905 ENSG00000134905 HGNC:25695 CHCHD10 gene CHCHD10 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Myopathy, isolated mitochondrial, autosomal dominant, 616209;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Spinal muscular atrophy, Jokela type False 3 100;0;0 9.54 False ENSG00000250479 ENSG00000250479 HGNC:15559 CLPB gene CLPB Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 25597510;25597511;25650066;26916670;28687938;34140661 False 3 100;0;0 9.54 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 False 3 100;0;0 9.54 True ENSG00000125656 ENSG00000125656 HGNC:2084 CMPK2 gene CMPK2 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018;basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875 33340416;36443312 False 3 100;0;0 9.54 False ENSG00000134326 ENSG00000134326 HGNC:27015 COA6 gene COA6 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 22277967;24549041;25959673;25339201 False 3 100;0;0 9.54 False ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 29718187;27683825 False 3 0;0;0 9.54 False ENSG00000162377 ENSG00000162377 HGNC:25716 COQ2 gene COQ2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 False 3 100;0;0 9.54 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 False 3 100;0;0 9.54 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Steroid-resistant nephrotic syndrome;Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 6, 614650 PMID: 21540551 False 3 100;0;0 9.54 True ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert list;Expert Review;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 8 616733;complex multisystem presentation 28409910;26084283;30369941 False 3 50;50;0 9.54 True ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 4, 612016;Coenzyme Q10 deficiency False 3 100;0;0 9.54 True ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 PMID: 24270420 (8 unrelated families). False 3 100;0;0 9.54 True ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 5, 614654;Coenzyme Q10 deficiency False 3 50;50;0 9.54 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 3 100;0;0 9.54 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 3 50;0;50 9.54 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 9.54 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX18 gene COX18 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626 37468577;40830826 False 3 50;25;25 9.54 False ENSG00000163626 ENSG00000163626 HGNC:26801 COX20 gene COX20 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 9.54 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I1 gene COX4I1 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 28766551;31290619;33578848 False 3 67;33;0 9.54 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 28247525;35246835 False 3 50;50;0 9.54 True ENSG00000178741 ENSG00000178741 HGNC:2267 COX6A1 gene COX6A1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 100;0;0 9.54 True ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 67;33;0 9.54 False ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 3 100;0;0 9.54 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Isolated complex IV deficiency;Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887;MICROPHTHALMIA WITH LINEAR SKIN LESIONS;Linear skin defects with multiple congenital anomalies False 3 100;0;0 9.54 True ENSG00000131174 ENSG00000131174 HGNC:2291 CRLS1 gene CRLS1 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 3 100;0;0 9.54 False ENSG00000088766 ENSG00000088766 HGNC:16148 CYC1 gene CYC1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 6, 615453 False 3 100;0;0 9.54 True ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, OMIM:612004 18345000;24326104;30051457 False 3 100;0;0 9.54 False ENSG00000172115 ENSG00000172115 HGNC:19986 DARS2 gene DARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 False 3 100;0;0 9.54 True ENSG00000117593 ENSG00000117593 HGNC:25538 DGUOK gene DGUOK Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Mitochondrial DNA Depletion Syndrome False 3 100;0;0 9.54 False ENSG00000114956 ENSG00000114956 HGNC:2858 DLAT gene DLAT Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E2 deficiency, 245348 False 3 100;0;0 9.54 True ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900;Leigh syndrome False 3 100;0;0 9.54 True ENSG00000091140 ENSG00000091140 HGNC:2898 DNA2 gene DNA2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of mitochondrial DNA maintenance and integrity;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;615156 False 3 100;0;0 9.54 True ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC19 gene DNAJC19 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of the mitochondrial import system;3-methylglutaconic aciduria, type V, 610198 16055927;22797137;27604308;27928778;27426421 False 3 100;0;0 9.54 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1L gene DNM1L Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 PMID: 26825290;17460227 False 3 100;0;0 9.54 True ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Centronuclear myopathy 1, 160150;Charcot-Marie-Tooth disease, axonal type 2M, 606482;Charcot-Marie-Tooth disease, dominant intermediate B, 606482 23813975;https://doi.org/10.1016/j.nmd.2012.06.124 False 3 100;0;0 9.54 True ENSG00000079805 ENSG00000079805 HGNC:2974 EARS2 gene EARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 12, 614924 False 3 100;0;0 9.54 True ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 9.54 True ENSG00000127884 ENSG00000127884 HGNC:3151 ELAC2 gene ELAC2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 17, 615440;infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency False 3 100;0;0 9.54 True ENSG00000006744 ENSG00000006744 HGNC:14198 ETFDH gene ETFDH Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;GLUTARIC ACIDURIA TYPE 2C;Glutaric acidemia IIC False 3 100;0;0 9.54 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Ethylmalonic encephalopathy, 602473;Ethylmalonic encephalopathy False 3 100;0;0 9.54 True ENSG00000105755 ENSG00000105755 HGNC:23287 FARS2 gene FARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 14, 614946 False 3 100;0;0 9.54 True ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 False 3 100;0;0 9.54 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBXL4 gene FBXL4 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 False 3 100;0;0 9.54 True ENSG00000112234 ENSG00000112234 HGNC:13601 FDX2 gene FDX2 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 24281368;28803783;30010796 False 3 50;50;0 9.54 False ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717;Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 28965846 False 3 100;0;0 9.54 True ENSG00000161513 ENSG00000161513 HGNC:3642 FH gene FH Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 False 3 100;0;0 9.54 True ENSG00000091483 ENSG00000091483 HGNC:3700 FLAD1 gene FLAD1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Multiple acyl-CoA dehydrogenase deficiencies (MADDs) PubMed: 27259049 False 3 0;100;0 9.54 True ENSG00000160688 ENSG00000160688 HGNC:24671 FOXRED1 gene FOXRED1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000110074 ENSG00000110074 HGNC:26927 GARS gene GARS Expert;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Charcot-Marie-Tooth disease, type 2D;Neuropathy, distal hereditary motor, type VA False 3 100;0;0 9.54 True ENSG00000106105 ENSG00000106105 HGNC:4162 GDAP1 gene GDAP1 Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 PMID: 11743579 False 3 100;0;0 9.54 True ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Disorders of the mitochondrial import system;Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076 PMID: 26018198;19409522 False 3 100;0;0 9.54 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 1, 609060 False 3 100;0;0 9.54 True ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397;Early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits 29075935;22700954;26016410 False 3 100;0;0 9.54 False ENSG00000164347 ENSG00000164347 HGNC:29682 GLRX5 gene GLRX5 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of iron homeostasis;Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 False 3 100;0;0 9.54 True ENSG00000182512 ENSG00000182512 HGNC:20134 GTPBP3 gene GTPBP3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy;Combined oxidative phosphorylation deficiency 23 False 3 100;0;0 9.54 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUK1 gene GUK1 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071;mitochondrial dna depletion syndrome 21, MONDO:0976132 39230499 False 3 100;0;0 9.54 False ENSG00000143774 ENSG00000143774 HGNC:4693 HADHB gene HADHB Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2, OMIM:620300 35403730 False 3 100;0;0 9.54 False ENSG00000138029 ENSG00000138029 HGNC:4803 HARS2 gene HARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Perrault syndrome 2, 614926 21464306;27650058 False 3 50;50;0 9.54 True ENSG00000112855 ENSG00000112855 HGNC:4817 HCCS gene HCCS Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Microphthalmia, syndromic 7, 309801;Linear skin defects with multiple congenital anomalies 1 False 3 100;0;0 9.54 True ENSG00000004961 ENSG00000004961 HGNC:4837 HIBCH gene HIBCH Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620;HIBCH deficiency PMID: 25251209;24299452 False 3 100;0;0 9.54 True ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 False 3 100;0;0 9.54 True ENSG00000159267 ENSG00000159267 HGNC:4976 HPDL gene HPDL Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026;Spastic paraplegia 83, autosomal recessive OMIM:619027 32707086 False 3 100;0;0 9.54 False ENSG00000186603 ENSG00000186603 HGNC:28242 HSD17B10 gene HSD17B10 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, OMIM:300438 26950678;12696021;19706438;22132097 False 3 100;0;0 9.54 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSPA9 gene HSPA9 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM:616854;Anemia, sideroblastic, 4, OMIM:182170 26491070;26598328;32869452;35779070;36052765 False 3 100;0;0 9.54 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR);Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) False 3 100;0;0 9.54 True ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal " 3-methylglutaconic aciduria, type VIII 617248" 27208207; 27696117 False 3 100;0;0 9.54 False ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 616007 30041933;28328135;25130867;27078007 False 3 100;0;0 9.54 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330;?Spastic paraplegia 74, autosomal recessive, OMIM:616451 PMID: 23462291;25971455 False 3 100;0;0 9.54 True ENSG00000181873 ENSG00000181873 HGNC:27302 IDH3A gene IDH3A Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563 31012789;30478029;30058936;28412069;28058510 False 3 100;0;0 9.54 False ENSG00000166411 ENSG00000166411 HGNC:5384 ISCA1 gene ISCA1 Expert list;Expert Review;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 28356563;29767723 False 3 0;0;0 9.54 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal infantile neurodegenerative mitochondrial disorder 25539947;29297947;29359243 False 3 100;0;0 9.54 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorders of iron homeostasis;Myopathy with lactic acidosis, hereditary, 255125 18296749;29079705;19567699;20206689;18304497 False 3 100;0;0 9.54 False ENSG00000136003 ENSG00000136003 HGNC:29882 KARS gene KARS Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Charcot-Marie-Tooth disease, recessive intermediate, B, 613641;Deafness, autosomal recessive 89, 613916 28887846;25330800;29615062;30252186;28496994 False 3 100;0;0 9.54 True ENSG00000065427 ENSG00000065427 HGNC:6215 KIAA0391 gene KIAA0391 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, OMIM:619737 34715011 False 3 100;0;0 9.54 False ENSG00000100890 ENSG00000100890 HGNC:19958 LARS2 gene LARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis False 3 100;0;0 9.54 True ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 33;33;33 9.54 False ENSG00000168924 ENSG00000168924 HGNC:6556 LIAS gene LIAS Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 False 3 100;0;0 9.54 True ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 33855352 False 3 100;0;0 9.54 False ENSG00000005156 ENSG00000005156 HGNC:6600 LIPT1 gene LIPT1 Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency False 3 100;0;0 9.54 True ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review;Expert Review Green;Other Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 28757203;28803783 False 3 0;100;0 9.54 False ENSG00000175536 ENSG00000175536 HGNC:37216 LONP1 gene LONP1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) PMID: 25574826; PMID: 25808063 False 3 100;0;0 9.54 True ENSG00000196365 ENSG00000196365 HGNC:9479 LRPPRC gene LRPPRC Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Leigh syndrome, French-Canadian type, 220111;Mitochondrial Diseases False 3 100;0;0 9.54 True ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM4 gene LYRM4 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, OMIM:615595 23814038;31497476 False 3 75;25;0 9.54 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert;Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 8;615838;leukoencephalopathy and complex III deficiency;severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle 27564080;27151179;27151179;27151179;26912632;24014394;28694194 False 3 100;0;0 9.54 False ENSG00000186687 ENSG00000186687 HGNC:28072 MARS2 gene MARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Spastic Ataxia 13, autosomal recessive, 611390;?Combined oxidative phosphorylation deficiency 25 22448145;25754315 False 3 50;50;0 9.54 True ENSG00000247626 ENSG00000247626 HGNC:25133 MDH2 gene MDH2 Expert Review Green;Literature;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 51 617339" 27989324 False 3 100;0;0 9.54 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 27817865 False 3 100;0;0 9.54 False ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal "Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086" False 3 100;0;0 9.54 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 False 3 100;0;0 9.54 True ENSG00000116688 ENSG00000116688 HGNC:16877 MGME1 gene MGME1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 11, 615084 False 3 100;0;0 9.54 True ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs 615673 24336167;29721912 False 3 100;0;0 9.54 False ENSG00000107745 ENSG00000107745 HGNC:1530 MIPEP gene MIPEP Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, 617228 27799064 False 3 100;0;0 9.54 False ENSG00000027001 ENSG00000027001 HGNC:7104 MPC1 gene MPC1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, OMIM:614741 22628558;27176894;27835892 False 3 100;0;0 9.54 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPV17 gene MPV17 Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3;Mitochondrial DNA Depletion Syndrome False 3 100;0;0 9.54 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRM2 gene MRM2 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 28973171;36002240 False 3 50;50;0 9.54 False ENSG00000122687 ENSG00000122687 HGNC:16352 MRPL3 gene MRPL3 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9, 614582 27815843;21786366 False 3 50;50;0 9.54 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL39 gene MRPL39 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 59, OMIM:620646 37133451 False 3 100;0;0 9.54 False ENSG00000154719 ENSG00000154719 HGNC:14027 MRPL44 gene MRPL44 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Combined oxidative phosphorylation deficiency 16, 615395 25797485;23315540 False 3 100;0;0 9.54 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPL49 gene MRPL49 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 60, OMIM:621195;combined oxidative phosphorylation deficiency, MONDO:0000732 40043708 False 3 100;0;0 9.54 False ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS2 gene MRPS2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36 617950 29576219 False 3 0;100;0 9.54 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 5, 611719 False 3 100;0;0 9.54 True ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32 617664 28777931 False 3 100;0;0 9.54 True ENSG00000074071 ENSG00000074071 HGNC:16618 MSTO1 gene MSTO1 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 28554942;28544275;29339779;37431817 False 3 0;0;0 9.54 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Emory Genetics Laboratory;Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency 24153443;20207608;32858252;33340416;32858252;19759059;22919063 False 3 75;25;0 9.54 True ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;CYTOCHROME c OXIDASE DEFICIENCY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE I DEFICIENCY False 3 100;0;0 9.54 True ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 9.54 True ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX IV DEFICIENCY;SEIZURES AND LACTIC ACIDOSIS False 3 100;0;0 9.54 True ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;ENCEPHALOMYOPATHY, MITOCHONDRIAL;MULTISYSTEM DISORDER;EXERCISE INTOLERANCE;CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;PARKINSONISM/MELAS OVERLAP SYNDROME False 3 100;0;0 9.54 True ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 27564080;21907147;24461907;23499752 False 3 100;0;0 9.54 False ENSG00000103707 ENSG00000103707 HGNC:29666 MT-ND1 gene MT-ND1 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;SUDDEN INFANT DEATH SYNDROME;MITOCHONDRIAL COMPLEX I DEFICIENCY;DYSTONIA, ADULT-ONSET;MELAS SYNDROME;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 9.54 True ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 9.54 True ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;MELAS SYNDROME;LEBER OPTIC ATROPHY AND DYSTONIA;MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 9.54 True ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY False 3 100;0;0 9.54 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MELAS SYNDROME;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MERRF SYNDROME False 3 100;0;0 9.54 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL LEBER OPTIC ATROPHY;LEBER OPTIC ATROPHY AND DYSTONIA;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MELAS SYNDROME;STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA False 3 100;0;0 9.54 True ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 10, 614702;infantile hypertrophic cardiomyopathy and lactic acidosis. False 3 100;0;0 9.54 True ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive 613672 20970105;25008111;26319014;27391121;27959697 False 3 100;0;0 9.54 False ENSG00000107951 ENSG00000107951 HGNC:25532 MT-RNR1 gene MT-RNR1 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL DEAFNESS, AMINOGLYCOSIDE-INDUCED;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;CARDIOMYOPATHY, RESTRICTIVE;AUDITORY NEUROPATHY False 3 100;0;0 9.54 True ENSG00000211459 ENSG00000211459 HGNC:7470 MT-TA gene MT-TA Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL MYOTONIC DYSTROPHY-LIKE MYOPATHY;MITOCHONDRIAL MYOPATHY False 3 100;0;0 9.54 True ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL MELAS SYNDROME;DYSTONIA, MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL MITOCHONDRIAL MYOPATHY, ISOLATED False 3 100;0;0 9.54 False ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS;DIABETES AND DEAFNESS, MATERNALLY INHERITED;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT False 3 100;0;0 9.54 True ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL familial hypertrophic cardiomyopathy, MONDO:0024573;familial dilated cardiomyopathy, MONDO:0016333 False 3 100;0;0 9.54 True ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Emory Genetics Laboratory;Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Emory Genetics Laboratory;Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210135 ENSG00000210135 HGNC:7493 MT-TP gene MT-TP Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TT gene MT-TT Expert Review Green;NHS GMS;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL mitochondrial disease, MONDO:0044970;Leber optic atrophy, OMIM:535000;myoclonic epilepsy associated with ragged-red fibers, OMIM:545000;fatal infantile respiratory enzyme deficiency;Inherited Diabetes Mellitus;adult onset mild myopathy 32083134;8769114;9367299;1645537;8511015;22638997;29760464;30236074;28187756;35808913 False 3 75;25;0 9.54 False ENSG00000210195 ENSG00000210195 HGNC:7499 MT-TV gene MT-TV Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert Review Green;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 3 100;0;0 9.54 True ENSG00000210144 ENSG00000210144 HGNC:7502 NADK2 gene NADK2 Expert;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 24847004;29388319;27940755 False 3 100;0;0 9.54 False ENSG00000152620 ENSG00000152620 HGNC:26404 NARS2 gene NARS2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 24 PMID: 25385316;25629079;25807530 False 3 100;0;0 9.54 True ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321 29903433;30576410;33224489;31755961 False 3 67;0;33 9.54 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27290639;27122014 False 3 100;0;0 9.54 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases 27604308;28247337;17262856;19185523;21596602 False 3 100;0;0 9.54 True ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome, 256000;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 100;0;0 9.54 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 25901006;32722639 False 3 75;25;0 9.54 True ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447;29636225 False 3 50;50;0 9.54 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 0;100;0 9.54 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 15576045;33153867;32385911 False 3 50;25;25 9.54 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 28671271;22114105 False 3 50;50;0 9.54 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Leigh syndrome, 256000;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex 1 deficiency, 252010;Mitochondrial Diseases PMID: 19542079;18940309 False 3 100;0;0 9.54 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency, 256000 18614015;27623250;26741492 False 3 100;0;0 9.54 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 3 0;0;0 9.54 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;32025618;33169436 False 3 60;40;0 9.54 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Isolated complex I deficiency;Linear skin defects with multiple congenital anomalies 3;histiocytoid cardiomyopathy;microphthalmia with linear skin defects syndrome False 3 100;0;0 9.54 True ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 False 3 100;0;0 9.54 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB7 gene NDUFB7 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 33502047;27626371;40025060 False 3 50;50;0 9.54 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 27290639;29429571 False 3 0;100;0 9.54 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC2 gene NDUFC2 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170 32969598 False 3 67;33;0 9.54 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 3 100;0;0 9.54 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome, 256000;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Complex I, mitochondrial respiratory chain, deficiency of, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome, 256000;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 False 3 100;0;0 9.54 True ENSG00000178127 ENSG00000178127 HGNC:7717 NFS1 gene NFS1 Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, OMIM:619386 16847322;24498631;33457206 False 3 100;0;0 9.54 False ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 False 3 100;0;0 9.54 True ENSG00000169599 ENSG00000169599 HGNC:16287 NSUN3 gene NSUN3 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, OMIM:619012 27356879;32488845 False 3 50;50;0 9.54 False ENSG00000178694 ENSG00000178694 HGNC:26208 NUBPL gene NUBPL Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency False 3 100;0;0 9.54 False ENSG00000151413 ENSG00000151413 HGNC:20278 OPA1 gene OPA1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 28494813;27150940;24970096;11017079;11017080;17722006;25012220 False 3 100;0;0 9.54 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 False 3 100;0;0 9.54 True ENSG00000125741 ENSG00000125741 HGNC:8142 OXCT1 gene OXCT1 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 8751852;10964512;11757586;23420214;25778941 False 3 100;0;0 9.54 False ENSG00000083720 ENSG00000083720 HGNC:8527 PANK2 gene PANK2 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal HARP syndrome, OMIM:607236;Neurodegeneration with brain iron accumulation 1, OMIM:234200 11479594;12510040;25778941;28863176 False 3 100;0;0 9.54 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Alpers syndrome;Epileptic encephalopathy, early infantile, 75, 618437 25629079;29915213;29410512;28077841 False 3 100;0;0 9.54 False ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC Expert Review;Expert Review Green;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 False 3 100;0;0 9.54 True ENSG00000173599 ENSG00000173599 HGNC:8636 PDE12 gene PDE12 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970 28745585;29903433;39567835 False 3 75;0;25 9.54 False ENSG00000174840 ENSG00000174840 HGNC:25386 PDHA1 gene PDHA1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency, 312170;Leigh syndrome, X-linked, 308930 False 3 100;0;0 9.54 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 False 3 100;0;0 9.54 True ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review;Expert Review Green;Other;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 False 3 100;0;0 9.54 True ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 False 3 100;0;0 9.54 True ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 2, 614651 PMID: 17332895 (2007) - Report a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E) in a consanguineous family with CoQ10 deficiency;PMID: 22494076 (2012) - A girl with developmental delay, nephrotic syndrome, and failure to thrive was reported to be a compound heterozygote for two novel variants in PDSS1 (p.Arg221Term and p.Ser370Arg). False 3 100;0;0 9.54 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 3, 614652 False 3 100;0;0 9.54 True ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Mitochondrial complex IV deficiency, 220110;Leigh syndrome PMID: 24462369 False 3 100;0;0 9.54 True ENSG00000229833 ENSG00000229833 HGNC:40038 PITRM1 gene PITRM1 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 26697887;29764912;29383861 False 3 100;0;0 9.54 True ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1, OMIM:256600;neurodegeneration with brain iron accumulation 2A, MONDO:0024457;Neurodegeneration with brain iron accumulation 2B, OMIM:610217;neurodegeneration with brain iron accumulation 2B, MONDO:0012444;Parkinson disease 14, autosomal recessive, OMIM:612953;autosomal recessive Parkinson disease 14 MONDO:0013060 29903433;25348461;26001724;26506412;30528460;16783378;32357911 False 3 100;0;0 9.54 False ENSG00000184381 ENSG00000184381 HGNC:9039 PMPCA gene PMPCA Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal non-progressive cerebellar ataxia;slowly progressive cerebellar ataxia PMID: 25808372; PMID: 26657514 False 3 100;0;0 9.54 True ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 0;0;0 9.54 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNPLA8 gene PNPLA8 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, 251950 29681094;25512002;25473036 False 3 100;0;0 9.54 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPT1 gene PNPT1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Deafness, autosomal recessive 70, OMIM:614934;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 3 100;0;0 9.54 True ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Eligibility statement exclusion criteria;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal recessive, 258450;Progressive external ophthalmoplegia, autosomal dominant, 157640;Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459;Mitochondrial DNA Depletion Syndrome;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions False 3 100;0;0 9.54 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 27592148;30157269;21555342;31286721 False 3 100;0;0 9.54 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLRMT gene POLRMT Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, OMIM:619743;combined oxidative phosphorylation deficiency 55, MONDO:0859228 24386581;33602924;40583167 False 3 67;33;0 9.54 False ENSG00000099821 ENSG00000099821 HGNC:9200 PPA2 gene PPA2 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 27523598 False 3 100;0;0 9.54 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPOX gene PPOX Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Variegate porphyria, OMIM:176200;Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297;variegate porphyria, childhood-onset, MONDO:0957577 9540991;9811936;10870850;12859407;25778941;30476629;32247286;33159949;35584894;37879139;38940544;40114189 False 3 100;0;0 9.54 False ENSG00000143224 ENSG00000143224 HGNC:9280 PTCD3 gene PTCD3 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 3 100;0;0 9.54 False ENSG00000132300 ENSG00000132300 HGNC:24717 PUS1 gene PUS1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Mitochondrial myopathy and sideroblastic anemia 1, 600462 15108122;15772074;28832011;26556812 False 3 100;0;0 9.54 False ENSG00000177192 ENSG00000177192 HGNC:15508 QARS gene QARS Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 28620870;25471517;25432320;25041233;24656866;32042906 False 3 100;0;0 9.54 True ENSG00000172053 ENSG00000172053 HGNC:9751 QRSL1 gene QRSL1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40, OMIM:618835 26741492;29440775;30283131 False 3 100;0;0 9.54 False ENSG00000130348 ENSG00000130348 HGNC:21020 RARS2 gene RARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Pontocerebellar hypoplasia, type 6, 611523 False 3 100;0;0 9.54 True ENSG00000146282 ENSG00000146282 HGNC:21406 RMND1 gene RMND1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 11, 614922;Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect False 3 100;0;0 9.54 True ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. False 3 100;0;0 9.54 True ENSG00000171865 ENSG00000171865 HGNC:18466 RRM2B gene RRM2B Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Mitochondrial DNA Depletion Syndrome (recessive) False 3 100;0;0 9.54 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 26593267;29181510;28638143 False 3 100;0;0 9.54 False ENSG00000130347 ENSG00000130347 HGNC:18647 SACS gene SACS Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS);Spastic ataxia, Charlevoix-Saguenay type PMID: 10655055 (17 families with 24 patients);PMID: 16606928 (case study);PMID: 15985586 (two siblings);PMID: 14718708 (two family members);PMID: 14718706 (two sisters);PMID: 12873855 (18 patients from 4 families) False 3 100;0;0 9.54 True ENSG00000151835 ENSG00000151835 HGNC:10519 SARS2 gene SARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 PMID: 21255763;24034276 False 3 100;0;0 9.54 True ENSG00000104835 ENSG00000104835 HGNC:17697 SCO1 gene SCO1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 3 100;0;0 9.54 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency False 3 100;0;0 9.54 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642 10976639;27683074;33471299 False 3 100;0;0 9.54 True ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, 252011 19465911;22995659;26642834 False 3 100;0;0 9.54 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 22972948;26925370;27604842;32124427 False 3 100;0;0 9.54 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency 252011 24367056;26008905 False 3 100;0;0 9.54 True ENSG00000204370 ENSG00000204370 HGNC:10683 SERAC1 gene SERAC1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 29205472 False 3 100;0;0 9.54 True ENSG00000122335 ENSG00000122335 HGNC:21061 SFXN4 gene SFXN4 Expert;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, 615578 24119684 False 3 100;0;0 9.54 False ENSG00000183605 ENSG00000183605 HGNC:16088 SLC13A3 gene SLC13A3 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 30635937;34966709;35527102;37290914;38235040;33340416 False 3 100;0;0 9.54 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC19A2 gene SLC19A2 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 3 100;0;0 9.54 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 False 3 100;0;0 9.54 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 9916797;17884651;25778941;28857146;10545605;11261427 False 3 100;0;0 9.54 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial protein transport;Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 23561848 False 3 100;0;0 9.54 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 39 612949 24515575;19641205;27290639 False 3 100;0;0 9.54 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A19 gene SLC25A19 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 False 3 100;0;0 9.54 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, OMIM:212138;carnitine-acylcarnitine translocase deficiency, MONDO:0008918 9399886;10384384;10697964;15057979;12859414;24088670;31108048;25778941 False 3 100;0;0 9.54 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A24 gene SLC25A24 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, OMIM:612289;Fontaine progeroid syndrome, MONDO:0012853 29903433;29100093;29100094 False 3 100;0;0 9.54 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness;Combined oxidative phosphorylation deficiency 28;intra-mitochondrial methylation deficiency. PMID: 26522469 False 3 100;0;0 9.54 True ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, 610773 27604308;17273968;25681081 False 3 100;0;0 9.54 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Exercise intolerance, riboflavin-responsive 616839 26933868;28443623 False 3 0;0;0 9.54 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A36 gene SLC25A36 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 34576089;34971397;36695547 False 3 100;0;0 9.54 False ENSG00000114120 ENSG00000114120 HGNC:25554 SLC25A38 gene SLC25A38 Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal nonsyndromic autosomal recessive congenital sideroblastic anemia;congenital sideroblastic anemias;severe, non-syndromic, microcytic/hypochromic sideroblastic anemia PMID: 19412178;PMID: 25985931 (mutations detected in 3 patients in this gene);PMID: 21393332 (11 patients);PMID: 19731322 (12 probands with mutations in this gene);PMID: 26821380 (potential novel treatment using glycine and folate). False 3 100;0;0 9.54 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 False 3 100;0;0 9.54 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial myopathy;Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416 29923093;29327420;26541337 False 3 100;0;0 9.54 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal optic atrophy spectrum disorder PMID: 26168012 False 3 100;0;0 9.54 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC52A2 gene SLC52A2 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, OMIM:614707;brown-Vialetto-van Laere syndrome 2, MONDO:0013867 29053833;29193829 False 3 100;0;0 9.54 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530;Brown-Vialetto-van Laere syndrome 1, MONDO:0024537 29053833;29193829 False 3 100;0;0 9.54 False ENSG00000101276 ENSG00000101276 HGNC:16187 SPATA5 gene SPATA5 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 27246907;29343804;26299366;28293831;30009132;36849973 False 3 100;0;0 9.54 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPG7 gene SPG7 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 9635427;16534102;17646629;18200586;20186691;22571692 False 3 100;0;0 9.54 True ENSG00000197912 ENSG00000197912 HGNC:11237 SQOR gene SQOR Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Sulfide:quinone oxidoreductase deficiency, OMIM:619221 32160317 False 3 75;25;0 9.54 False ENSG00000137767 ENSG00000137767 HGNC:20390 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 29182774;34905022;31298765;31479473;31550237;31550240 False 3 100;0;0 9.54 False ENSG00000106028 ENSG00000106028 HGNC:11317 SUCLA2 gene SUCLA2 Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 9.54 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400;Mitochondrial DNA Depletion Syndrome False 3 100;0;0 9.54 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUPV3L1 gene SUPV3L1 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome 35023579;39596606 False 3 100;0;0 9.54 False ENSG00000156502 ENSG00000156502 HGNC:11471 SURF1 gene SURF1 Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Leigh syndrome, due to COX deficiency, 256000;Mitochondrial Diseases;Leigh Syndrome;Complex IV deficiency False 3 100;0;0 9.54 True ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Mitochondrial complex IV deficiency, 220110;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency False 3 100;0;0 9.54 False ENSG00000136463 ENSG00000136463 HGNC:24316 TAMM41 gene TAMM41 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 56, OMIM:620139 35321494 False 3 100;0;0 9.54 False ENSG00000144559 ENSG00000144559 HGNC:25187 TARS2 gene TARS2 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398 33153448;24827421;34508595 False 3 100;0;0 9.54 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAZ gene TAZ Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial lipid metabolism;Barth syndrome, 302060 False 3 100;0;0 9.54 True ENSG00000102125 ENSG00000102125 HGNC:11577 TEFM gene TEFM Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 3 100;0;0 9.54 False ENSG00000172171 ENSG00000172171 HGNC:26223 TFAM gene TFAM Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 27448789;31785789;32399598;34647195 False 3 67;33;0 9.54 False ENSG00000108064 ENSG00000108064 HGNC:11741 TIMM50 gene TIMM50 Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX 617698 27573165 False 3 100;0;0 9.54 True ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of the mitochondrial import system;Deafness, X-linked 1, progressive;Mohr-Tranebjaerg syndrome, 304700;Jensen syndrome, 311150 False 3 100;0;0 9.54 True ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 28604674;33278652 False 3 100;0;0 9.54 False ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 False 3 100;0;0 9.54 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency 27374774;27374773 False 3 50;50;0 9.54 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM70 gene TMEM70 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex V deficiency;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;Mitochondrial Diseases False 3 100;0;0 9.54 False ENSG00000175606 ENSG00000175606 HGNC:26050 TOMM7 gene TOMM7 Expert Review Green;Literature;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601;Garg-Mishra progeroid syndrome, MONDO:0957953 36282599;36299998;39333057 False 3 67;33;0 9.54 False ENSG00000196683 ENSG00000196683 HGNC:21648 TOP3A gene TOP3A Expert list;Expert Review Green;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 29290614 False 3 0;0;100 9.54 False ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 False 3 100;0;0 9.54 True ENSG00000196511 ENSG00000196511 HGNC:17358 TRIT1 gene TRIT1 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 28185376;24901367 False 3 100;0;0 9.54 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 30, 616974 27132592 False 3 0;100;0 9.54 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 26189817;29021354 False 3 100;0;0 9.54 True ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);{Deafness, mitochondrial, modifier of}, 580000;Liver failure, transient infantile, 613070 False 3 100;0;0 9.54 True ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD); retinitis pigmentosa with erythrocytic microcytosis PMID: 25652405;PMID: 26494905 False 3 100;0;0 9.54 True ENSG00000072756 ENSG00000072756 HGNC:17341 TSFM gene TSFM Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505 27604308;17033963;25037205 False 3 100;0;0 9.54 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Emory Genetics Laboratory;Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 2, 615157;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex III Deficiency False 3 100;0;0 9.54 False ENSG00000011295 ENSG00000011295 HGNC:26006 TUFM gene TUFM Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4 610678 28132884;25735936;17160893;26741492 False 3 100;0;0 9.54 False ENSG00000178952 ENSG00000178952 HGNC:12420 TWNK gene TWNK Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286;Perrault syndrome 5, OMIM:616138 False 3 100;0;0 9.54 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041;Mitochondrial Neurogastrointestinal Encephalopathy Disease False 3 100;0;0 9.54 False ENSG00000025708 ENSG00000025708 HGNC:3148 UQCC2 gene UQCC2 Expert;Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 3 50;50;0 9.54 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Emory Genetics Laboratory;Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 12709789;25446085;23454382;28604960;23281071;28275242 False 3 100;0;0 9.54 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 23281071;28275242;33865955 False 3 100;0;0 9.54 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 31883641 False 3 75;25;0 9.54 False ENSG00000169021 ENSG00000169021 HGNC:12587 VARS2 gene VARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 20, 615917 False 3 100;0;0 9.54 True ENSG00000137411 ENSG00000137411 HGNC:21642 WARS2 gene WARS2 Expert list;Expert Review Green Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 28905505;28650581;28236339 False 3 50;50;0 9.54 False ENSG00000116874 ENSG00000116874 HGNC:12730 YARS2 gene YARS2 Expert;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 False 3 100;0;0 9.54 False ENSG00000139131 ENSG00000139131 HGNC:24249 ANO10 gene ANO10 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, OMIM:613728;autosomal recessive spinocerebellar ataxia 10, MONDO:0013392 25778941 False 2 25;50;25 9.54 True ENSG00000160746 ENSG00000160746 HGNC:25519 ATP5B gene ATP5B Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 9.54 True ENSG00000110955 ENSG00000110955 HGNC:830 COASY gene COASY Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, OMIM:615643;neurodegeneration with brain iron accumulation 6, MONDO:0014290;Pontocerebellar hypoplasia, type 12, OMIM:618266;pontocerebellar hypoplasia, type 12, MONDO:0032643 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 2 100;0;0 9.54 False ENSG00000068120 ENSG00000068120 HGNC:29932 COQ5 gene COQ5 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 33;33;33 9.54 False ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 Expert;Expert list;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053 22243966 False 2 40;60;0 9.54 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355;Hypertrophic cardiomyopathy;Encephalopathy;Severe fatal lactic acidosis 33169484 False 2 0;100;0 9.54 False ENSG00000133983 ENSG00000133983 HGNC:20213 CRAT gene CRAT Expert list;Expert Review Amber Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Neurodegeneration with brain iron accumulation 8, OMIM:617917;Leigh syndrome, MONDO:0009723 29395073;29903433;31448845 False 2 0;67;33 9.54 False ENSG00000095321 ENSG00000095321 HGNC:2342 DCC gene DCC Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal "Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542" 28250456 False 2 0;100;0 9.54 False ENSG00000187323 ENSG00000187323 HGNC:2701 ETFA gene ETFA Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 1882842;12815589;25929793;27604308 False 2 100;0;0 9.54 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;30847515;32550677;27081516 False 2 100;0;0 9.54 False ENSG00000105379 ENSG00000105379 HGNC:3482 IDH1 gene IDH1 Expert Review Amber;Literature;NHS GMS Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236;33340416 False 2 33;67;0 9.54 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDH3B gene IDH3B Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, 612572 18806796 False 2 0;100;0 9.54 False ENSG00000101365 ENSG00000101365 HGNC:5385 MRPS14 gene MRPS14 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;100;0 9.54 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 2, 610498 28749478;15505824 False 2 50;50;0 9.54 False ENSG00000182180 ENSG00000182180 HGNC:14048 MT-RNR2 gene MT-RNR2 Expert Review Amber;UKGTN Mitochondrial disorders Mitochondrial MITOCHONDRIAL False 2 50;50;0 9.54 False ENSG00000210082 ENSG00000210082 HGNC:7471 NDUFA5 gene NDUFA5 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mitochondrial complex I deficiency, MONDO:0100133 24154540;41859003;41916321 False 2 50;50;0 9.54 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFB9 gene NDUFB9 Expert;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency;?Mitochondrial complex I deficiency, 252010 22200994 False 2 100;0;0 9.54 False ENSG00000147684 ENSG00000147684 HGNC:7704 OGDH gene OGDH Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740;oxoglutaricaciduria, MONDO:0008759 32383294;36520152 False 2 67;33;0 9.54 False ENSG00000105953 ENSG00000105953 HGNC:8124 OXA1L gene OXA1L Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 16435202;30201738 False 2 0;100;0 9.54 False ENSG00000155463 ENSG00000155463 HGNC:8526 PCK2 gene PCK2 Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal PEPCK deficiency, mitochondrial, OMIM:261650;Abnormal gait;peripheral neuropathy 36845668 False 2 0;100;0 9.54 False ENSG00000100889 ENSG00000100889 HGNC:8725 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 9.54 False ENSG00000110536 ENSG00000110536 HGNC:26965 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 29517768 False 2 0;100;0 9.54 False ENSG00000183032 ENSG00000183032 HGNC:14411 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 30452684 False 2 0;100;0 9.54 False ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 28295037 False 2 0;100;0 9.54 False ENSG00000164983 ENSG00000164983 HGNC:25203 TOMM70 gene TOMM70 Expert Review Amber;Literature Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe anaemia, lactic acidosis;developmental delay;white matter abnormalities 31907385;32356556 False 2 0;100;0 9.54 False ENSG00000154174 ENSG00000154174 HGNC:11985 UQCC3 gene UQCC3 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;?Mitochondrial complex III deficiency, nuclear type, 616111 25008109;28804536 False 2 100;0;0 9.54 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 9.54 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Emory Genetics Laboratory;Expert;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546 False 2 100;0;0 9.54 False ENSG00000164405 ENSG00000164405 HGNC:29594 XPNPEP3 gene XPNPEP3 Expert list;Expert Review Amber Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 2 25;50;25 9.54 True ENSG00000196236 ENSG00000196236 HGNC:28052 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 False 2 0;100;0 9.54 False ENSG00000136758 ENSG00000136758 HGNC:12843 ABCB6 gene ABCB6 Expert list Mitochondrial disorders Mitochondrial Dyschromatosis universalis hereditaria 3 615402;Microphthalmia, isolated, with coloboma 7 614497;Pseudohyperkalemia, familial, 2, due to red cell leak 609153 29903433 False 1 0;0;100 9.54 False ENSG00000115657 ENSG00000115657 HGNC:47 ACADM gene ACADM Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 False 1 0;0;100 9.54 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 False 1 0;0;100 9.54 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, 610006 False 1 0;0;100 9.54 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 False 1 0;0;100 9.54 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, 203750 False 1 0;0;100 9.54 False ENSG00000075239 ENSG00000075239 HGNC:93 ACAT2 gene ACAT2 Expert Review Red;Literature Mitochondrial disorders Mitochondrial Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 9.54 False ENSG00000120437 ENSG00000120437 HGNC:94 ACSL4 gene ACSL4 Expert Review Red;Literature Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females Long-chain fatty acid-CoA ligase 4 deficiency;Mental retardation;Autistic features;Intellectual disability PMID: 33340416 False 1 50;0;50 9.54 False ENSG00000068366 ENSG00000068366 HGNC:3571 AK2 gene AK2 Expert list Mitochondrial disorders Mitochondrial Reticular dysgenesis 267500 29903433;19043417 False 1 0;0;100 9.54 False ENSG00000004455 ENSG00000004455 HGNC:362 ALAS2 gene ALAS2 Expert list Mitochondrial disorders Mitochondrial Anemia, sideroblastic, 1, OMIM:300751;Protoporphyria, erythropoietic, X-linked, OMIM:300752 29903433 False 1 0;0;100 9.54 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert list Mitochondrial disorders Mitochondrial Cutis laxa, autosomal dominant 3 616603;Cutis laxa, autosomal recessive, type IIIA 219150;Spastic paraplegia 9A, autosomal dominant 601162;Spastic paraplegia 9B, autosomal recessive 616586 29903433 False 1 0;0;100 9.54 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1B1 gene ALDH1B1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 9.54 True ENSG00000137124 ENSG00000137124 HGNC:407 APOO gene APOO Literature Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour 32439808 False 1 0;0;100 9.54 False ENSG00000184831 ENSG00000184831 HGNC:28727 ATAD3B gene ATAD3B Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype;Influence on AIDS progression False 1 0;100;0 9.54 True ENSG00000160072 ENSG00000160072 HGNC:24007 ATP5C1 gene ATP5C1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000165629 ENSG00000165629 HGNC:833 ATP5F1 gene ATP5F1 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000116459 ENSG00000116459 HGNC:840 ATP5G1 gene ATP5G1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000135390 ENSG00000135390 HGNC:842 ATP5H gene ATP5H Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000167863 ENSG00000167863 HGNC:845 ATP5I gene ATP5I Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000154723 ENSG00000154723 HGNC:847 ATP5J2 gene ATP5J2 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000241468 ENSG00000241468 HGNC:848 ATP5L gene ATP5L Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000167283 ENSG00000167283 HGNC:14247 ATP5L2 gene ATP5L2 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000249222 ENSG00000249222 HGNC:13213 ATPAF1 gene ATPAF1 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000123472 ENSG00000123472 HGNC:18803 BDH1 gene BDH1 Expert list Mitochondrial disorders Mitochondrial 29903433;29501613;21285140 False 1 0;0;100 9.54 False ENSG00000161267 ENSG00000161267 HGNC:1027 BOLA1 gene BOLA1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000183336 ENSG00000183336 HGNC:29488 C19orf12 gene C19orf12 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, 614298;Mitochondrial Membrane Protein-Associated Neurodegeneration False 1 25;0;75 9.54 True ENSG00000131943 ENSG00000131943 HGNC:25443 CEP89 gene CEP89 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems 23575228 False 1 100;0;0 9.54 True ENSG00000121289 ENSG00000121289 HGNC:25907 CHKB gene CHKB Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, 602541 26782016 False 1 50;0;50 9.54 False ENSG00000100288 ENSG00000100288 HGNC:1938 CISD2 gene CISD2 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, 604928 False 1 0;0;100 9.54 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLPX gene CLPX Expert list Mitochondrial disorders Mitochondrial ?Protoporphyria, erythropoietic, 2 618015 29903433;28874591;25957689 False 1 0;0;100 9.54 False ENSG00000166855 ENSG00000166855 HGNC:2088 COA1 gene COA1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 True ENSG00000106603 ENSG00000106603 HGNC:21868 COA3 gene COA3 Expert Review;Expert Review Red;Literature;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 1 33;33;33 9.54 False ENSG00000183978 ENSG00000183978 HGNC:24990 COA4 gene COA4 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000181924 ENSG00000181924 HGNC:24604 COA5 gene COA5 Expert;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 21457908 False 1 50;50;0 9.54 True ENSG00000183513 ENSG00000183513 HGNC:33848 COX17 gene COX17 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000138495 ENSG00000138495 HGNC:2264 COX19 gene COX19 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000240230 ENSG00000240230 HGNC:28074 COX4I2 gene COX4I2 Emory Genetics Laboratory;Expert;Expert Review Red;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714;Mitochondrial Diseases 19268275;22592081 False 1 50;0;50 9.54 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX5B gene COX5B Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6B2 gene COX6B2 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000160471 ENSG00000160471 HGNC:24380 COX6C gene COX6C Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 9.54 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert list;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 26685157 False 1 100;0;0 9.54 True ENSG00000176340 ENSG00000176340 HGNC:2294 CPT1A gene CPT1A Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, 255120 False 1 0;0;100 9.54 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110 False 1 0;0;100 9.54 False ENSG00000157184 ENSG00000157184 HGNC:2330 CTBP1 gene CTBP1 Expert list Mitochondrial disorders Mitochondrial Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 29903433;27094857;29291004 False 1 0;0;100 9.54 False ENSG00000159692 ENSG00000159692 HGNC:2494 CYP24A1 gene CYP24A1 Expert list Mitochondrial disorders Mitochondrial Hypercalcemia, infantile, 1 143880 29903433 False 1 0;0;100 9.54 False ENSG00000019186 ENSG00000019186 HGNC:2602 D2HGDH gene D2HGDH Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721 False 1 0;0;100 9.54 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert;Expert Review Red Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 1 25;25;50 9.54 False ENSG00000115866 ENSG00000115866 HGNC:2678 DHTKD1 gene DHTKD1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic and 2-oxoadipic aciduria, 204750 False 1 25;25;50 9.54 True ENSG00000181192 ENSG00000181192 HGNC:23537 DIABLO gene DIABLO Expert list Mitochondrial disorders Mitochondrial Deafness, autosomal dominant 64 614152 29903433;23510774 False 1 0;0;100 9.54 False ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH1 gene DIAPH1 Expert list Mitochondrial disorders Mitochondrial Deafness, autosomal dominant 1 124900;Seizures, cortical blindness, microcephaly syndrome 616632 29903433;27808407;26912466 False 1 0;0;100 9.54 False ENSG00000131504 ENSG00000131504 HGNC:2876 DLST gene DLST Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype?Familial Alzheimer disease False 1 0;100;0 9.54 False ENSG00000119689 ENSG00000119689 HGNC:2911 DTD1 gene DTD1 Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial False 1 0;0;0 9.54 False ENSG00000125821 ENSG00000125821 HGNC:16219 DYM gene DYM Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 False 1 0;100;0 9.54 False ENSG00000141627 ENSG00000141627 HGNC:21317 ECSIT gene ECSIT Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000130159 ENSG00000130159 HGNC:29548 ERAL1 gene ERAL1 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 False 1 0;50;50 9.54 False ENSG00000132591 ENSG00000132591 HGNC:3424 ERCC6L2 gene ERCC6L2 Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial False 1 0;0;0 9.54 False ENSG00000182150 ENSG00000182150 HGNC:26922 FA2H gene FA2H Expert list Mitochondrial disorders Mitochondrial Spastic paraplegia 35, autosomal recessive 612319 29903433 False 1 0;0;100 9.54 False ENSG00000103089 ENSG00000103089 HGNC:21197 FBP2 gene FBP2 Expert Review Mitochondrial disorders Mitochondrial Unknown isolated lactic acidosis False 1 0;0;0 9.54 False ENSG00000130957 ENSG00000130957 HGNC:3607 FGF12 gene FGF12 Expert list Mitochondrial disorders Mitochondrial Epileptic encephalopathy, early infantile, 47 617166 29903433;27164707;27872899 False 1 0;0;100 9.54 False ENSG00000114279 ENSG00000114279 HGNC:3668 FXN gene FXN Expert;Expert Review Red;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 10500103;11351132 False 1 75;0;25 9.54 True ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC Expert Review;Expert Review Red Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 False 1 0;0;100 9.54 False ENSG00000131482 ENSG00000131482 HGNC:4056 GATB gene GATB Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 30283131 False 1 0;0;100 9.54 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert list;Expert Review Red Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 1 0;50;50 9.54 False ENSG00000257218 ENSG00000257218 HGNC:25068 GATM gene GATM Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 False 1 100;0;0 9.54 True ENSG00000171766 ENSG00000171766 HGNC:4175 GLUD1 gene GLUD1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762 False 1 33;0;67 9.54 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GUF1 gene GUF1 Expert list Mitochondrial disorders Mitochondrial ?Epileptic encephalopathy, early infantile, 40 617065 29903433;26486472 False 1 0;0;100 9.54 False ENSG00000151806 ENSG00000151806 HGNC:25799 HADH gene HADH Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530;Hyperinsulinemic hypoglycemia, familial, 4, 609975 False 1 0;0;100 9.54 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, 609016;Trifunctional protein deficiency, 609015 False 1 0;0;100 9.54 False ENSG00000084754 ENSG00000084754 HGNC:4801 HMGCL gene HMGCL Expert Review Red;Other Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450;3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMGCLD 28583327;8617516;9463337;11129331 False 1 67;0;33 9.54 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 False 1 0;0;100 9.54 False ENSG00000134240 ENSG00000134240 HGNC:5008 HSPE1 gene HSPE1 Expert list Mitochondrial disorders Mitochondrial Neurological and Developmental Disorder 29903433;27774450 False 1 0;0;100 9.54 False ENSG00000115541 ENSG00000115541 HGNC:5269 HTT gene HTT Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Other Huntington disease, OMIM:143100 False 1 0;0;100 9.54 False ENSG00000197386 ENSG00000197386 HGNC:4851 IARS gene IARS Expert list Mitochondrial disorders Mitochondrial False 1 0;100;0 9.54 False ENSG00000196305 ENSG00000196305 HGNC:5330 IER3IP1 gene IER3IP1 Expert Review Red;Other Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 1 50;0;50 9.54 False ENSG00000134049 ENSG00000134049 HGNC:18550 KIF5A gene KIF5A Expert list Mitochondrial disorders Mitochondrial Myoclonus, intractable, neonatal 617235;Spastic paraplegia 10, autosomal dominant 604187;{Amyotrophic lateral sclerosis, susceptibility to, 25} 617921 29903433 False 1 0;0;100 9.54 False ENSG00000155980 ENSG00000155980 HGNC:6323 L2HGDH gene L2HGDH Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 False 1 0;0;100 9.54 False ENSG00000087299 ENSG00000087299 HGNC:20499 LACTB gene LACTB Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000103642 ENSG00000103642 HGNC:16468 LARS gene LARS Expert Mitochondrial disorders Mitochondrial False 1 100;0;0 9.54 False ENSG00000133706 ENSG00000133706 HGNC:6512 MICU2 gene MICU2 Expert list Mitochondrial disorders Mitochondrial severe cognitive impairment and spasticity 29903433;29053821 False 1 0;0;100 9.54 False ENSG00000165487 ENSG00000165487 HGNC:31830 MIEF2 gene MIEF2 Expert Review Red;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 49, OMIM:619024 29361167 False 1 0;50;50 9.54 False ENSG00000177427 ENSG00000177427 HGNC:17920 MRPL12 gene MRPL12 Expert list;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype 23603806 False 1 50;0;50 9.54 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL40 gene MRPL40 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS23 gene MRPS23 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies 26741492 False 1 67;0;33 9.54 True ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS25 gene MRPS25 Expert Review Red;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 50, OMIM:619025 31039582 False 1 0;50;50 9.54 False ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert Review Red;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 47, OMIM:618958 30566640 False 1 0;50;50 9.54 False ENSG00000147586 ENSG00000147586 HGNC:14513 MRPS7 gene MRPS7 Expert list;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Combined oxidative phosphorylation deficiency 34, 617872 False 1 100;0;0 9.54 False ENSG00000125445 ENSG00000125445 HGNC:14499 NDUFA3 gene NDUFA3 Expert list;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 1 0;100;0 9.54 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA7 gene NDUFA7 Expert list;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert list;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype 28837730 False 1 0;50;50 9.54 False ENSG00000003509 ENSG00000003509 HGNC:28816 NDUFB1 gene NDUFB1 Expert list;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert list Mitochondrial disorders Mitochondrial Isolated complex I deficiency False 1 0;100;0 9.54 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert list;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert list Mitochondrial disorders Mitochondrial Isolated complex I deficiency False 1 0;100;0 9.54 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert list Mitochondrial disorders Mitochondrial Isolated complex I deficiency False 1 0;100;0 9.54 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFC1 gene NDUFC1 Expert list;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Isolated complex I deficiency;No OMIM phenotype;Mitochondrial Diseases False 1 0;100;0 9.54 True ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Unknown Isolated complex I deficiency;No OMIM phenotype;Mitochondrial Diseases False 1 0;100;0 9.54 True ENSG00000160194 ENSG00000160194 HGNC:7719 NNT gene NNT Expert Mitochondrial disorders Mitochondrial False 1 100;0;0 9.54 False ENSG00000112992 ENSG00000112992 HGNC:7863 PAM16 gene PAM16 Expert list Mitochondrial disorders Mitochondrial Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320 29903433;27354339 False 1 0;0;100 9.54 False ENSG00000217930 ENSG00000217930 HGNC:29679 PDK1 gene PDK1 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 100;0;0 9.54 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK3 gene PDK3 Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 1 33;33;33 9.54 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDK4 gene PDK4 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDP2 gene PDP2 Expert Review;Other Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 9.54 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review;Expert Review Red;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal 25558065 False 1 50;50;0 9.54 False ENSG00000090857 ENSG00000090857 HGNC:30264 PET117 gene PET117 Expert list;Expert Review Red Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 1 0;0;0 9.54 False ENSG00000232838 ENSG00000232838 HGNC:40045 PNPLA4 gene PNPLA4 Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial False 1 0;0;100 9.54 False ENSG00000006757 ENSG00000006757 HGNC:24887 POP1 gene POP1 Expert Mitochondrial disorders Mitochondrial False 1 0;100;0 9.54 False ENSG00000104356 ENSG00000104356 HGNC:30129 PTCD1 gene PTCD1 Expert list Mitochondrial disorders Mitochondrial Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 9.54 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTRH2 gene PTRH2 Expert list Mitochondrial disorders Mitochondrial Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263 29903433;28328138;31057140;25558065 False 1 0;0;100 9.54 False ENSG00000141378 ENSG00000141378 HGNC:24265 PYCR1 gene PYCR1 Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940;Cutis laxa, autosomal recessive, type IIIB, 614438 False 1 50;0;50 9.54 True ENSG00000183010 ENSG00000183010 HGNC:9721 ROBO3 gene ROBO3 Expert Review Red;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 15105459; 16525029 False 1 67;0;33 9.54 False ENSG00000154134 ENSG00000154134 HGNC:13433 SAMHD1 gene SAMHD1 Expert list;Expert Review Red Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome-5 (AGS5) PMID: 19525956;25604658 False 1 50;0;50 9.54 True ENSG00000101347 ENSG00000101347 HGNC:15925 SDHAF2 gene SDHAF2 Emory Genetics Laboratory;Expert;Expert list Mitochondrial disorders Mitochondrial Mitochondrial Diseases;Isolated complex II deficiency False 1 50;0;50 9.54 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHAF3 gene SDHAF3 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000196636 ENSG00000196636 HGNC:21752 SDHAF4 gene SDHAF4 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000154079 ENSG00000154079 HGNC:20957 SDHC gene SDHC Emory Genetics Laboratory;Expert;Expert list Mitochondrial disorders Mitochondrial Mitochondrial Diseases;Isolated complex II deficiency False 1 100;0;0 9.54 False ENSG00000143252 ENSG00000143252 HGNC:10682 SECISBP2 gene SECISBP2 Expert list Mitochondrial disorders Mitochondrial False 1 0;0;100 9.54 False ENSG00000187742 ENSG00000187742 HGNC:30972 SEPSECS gene SEPSECS Expert list Mitochondrial disorders Mitochondrial 29903433;29464431;20920667 False 1 0;0;100 9.54 False ENSG00000109618 ENSG00000109618 HGNC:30605 SLC13A5 gene SLC13A5 Expert Review Red;Literature Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Plasma membrane citrate transporter deficiency;Epileptic encephalopathy;Delayed psychomotor development. PMID: 33340416 False 1 50;0;50 9.54 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC25A10 gene SLC25A10 Expert list Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 19, OMIM:618972 29903433;29211846 False 1 0;0;100 9.54 False ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A13 gene SLC25A13 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Citrullinemia, adult-onset type II, 603471;Citrullinemia, type II, neonatal-onset, 605814 False 1 100;0;0 9.54 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A22 gene SLC25A22 Expert;Expert Review Red;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304 False 1 50;0;50 9.54 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A40 gene SLC25A40 Expert Mitochondrial disorders Mitochondrial False 1 0;100;0 9.54 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC33A1 gene SLC33A1 Expert list Mitochondrial disorders Mitochondrial Congenital cataracts, hearing loss, and neurodegeneration 614482;Spastic paraplegia 42, autosomal dominant 612539 29903433 False 1 0;0;100 9.54 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC39A8 gene SLC39A8 Expert list Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, OMIM:616721;SLC39A8-CDG, MONDO:0014746 29903433;29453449;27995398 False 1 0;50;50 9.54 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC44A1 gene SLC44A1 Expert list Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy 29903433;28097321 False 1 0;0;100 9.54 False ENSG00000070214 ENSG00000070214 HGNC:18798 SRRT gene SRRT Expert list Mitochondrial disorders Mitochondrial Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 9.54 False ENSG00000087087 ENSG00000087087 HGNC:24101 STAT2 gene STAT2 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal severe neurological deterioration following viral infection;elongated mitochondria;Immunodeficiency 44, 616636 26122121;28087227;23391734 False 1 75;0;25 9.54 True ENSG00000170581 ENSG00000170581 HGNC:11363 STXBP1 gene STXBP1 Expert list Mitochondrial disorders Mitochondrial Epileptic encephalopathy, early infantile, 4 612164 29903433 False 1 0;0;100 9.54 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLG2 gene SUCLG2 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000172340 ENSG00000172340 HGNC:11450 TANGO2 gene TANGO2 Expert Review;Expert Review Red Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 26805782;26805781 False 1 67;0;33 9.54 False ENSG00000183597 ENSG00000183597 HGNC:25439 TIMM44 gene TIMM44 Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000104980 ENSG00000104980 HGNC:17316 TMEM126A gene TMEM126A Expert;Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial Optic atrophy-7, 612989 False 1 100;0;0 9.54 False ENSG00000171202 ENSG00000171202 HGNC:25382 TRAK1 gene TRAK1 Expert list Mitochondrial disorders Mitochondrial False 1 0;0;100 9.54 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAP1 gene TRAP1 Expert Mitochondrial disorders Mitochondrial PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 1 100;0;0 9.54 False ENSG00000126602 ENSG00000126602 HGNC:16264 TXN2 gene TXN2 Expert list;Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 26626369 False 1 100;0;0 9.54 True ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC1 gene UQCC1 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000101019 ENSG00000101019 HGNC:15891 UQCR10 gene UQCR10 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000184076 ENSG00000184076 HGNC:30863 UQCR11 gene UQCR11 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 9.54 False ENSG00000127540 ENSG00000127540 HGNC:30862 UQCRH gene UQCRH Radboud University Medical Center, Nijmegen Mitochondrial disorders Mitochondrial No OMIM phenotype False 1 0;100;0 9.54 False ENSG00000173660 ENSG00000173660 HGNC:12590 USMG5 gene USMG5 Expert list Mitochondrial disorders Mitochondrial Autosomal recessive Leigh syndrome 29903433;29917077;30240627 False 1 0;100;0 9.54 False ENSG00000173915 ENSG00000173915 HGNC:30889 VPS13C gene VPS13C Expert Review Red;Victorian Clinical Genetics Services Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, 616840 26942284;30452786;28862745 False 1 33;0;67 9.54 False ENSG00000129003 ENSG00000129003 HGNC:23594 WFS1 gene WFS1 Expert Review Red;NHS GMS Mitochondrial disorders Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, 222300;Deafness, autosomal dominant 6/14/38, 600965;Wolfram-like syndrome, autosomal dominant, 614296 False 1 0;0;100 9.54 False ENSG00000109501 ENSG00000109501 HGNC:12762 XRCC4 gene XRCC4 Expert list Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 29903433 False 1 0;0;100 9.54 False ENSG00000152422 ENSG00000152422 HGNC:12831 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert Review Mitochondrial disorders Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 0;0;0 9.54 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 FXN_GAA str FXN NHS GMS;Expert Review Red;Expert Review Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 100;0;0 9.54 True ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 ISCA-37440-Loss region Expert Review Green;ClinGen Mitochondrial disorders Mitochondrial BIALLELIC, autosomal or pseudoautosomal mild/moderate mental retardation;facial dysmorphism;Hypotonia-cystinuria syndrome (HCS);2p21 deletion syndrome;rapid weight gain in late childhood;failure to thrive;growth hormone deficiency;606407;lactic acidemia;respiratory chain complex IV deficiency;hyperphagia;minor facial dysmorphism;severe somatic and developmental delay;nephrolithiasis;cystinuria;neonatal seizures;hypotonia 11524703;18234729;16385448 False 3 0;0;0 9.54 False 2 44183133 44362502 30 60 cnv_loss 2p21 region (includes PREPL and SLC3A1) Loss