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 ACADS gene ACADS Expert Review Amber;Literature;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25778941;2808706;29678161 False 2 50;50;0 1.22 True ENSG00000122971 ENSG00000122971 HGNC:90 APOO gene APOO Expert Review Amber;Literature Mitochondrial disease Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial disease, MONDO:0044970, APOO-related;Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32439808;37649161 False 2 0;67;33 1.22 True ENSG00000184831 ENSG00000184831 HGNC:28727 ATP5B gene ATP5B Expert Review Amber;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 38, susceptibility to, MIM# 621502;Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36860166;36239646;40276935 False 2 0;100;0 1.22 True ENSG00000110955 ENSG00000110955 HGNC:830 C17orf80 gene C17orf80 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 41720819 False 2 0;100;0 1.22 True ENSG00000141219 ENSG00000141219 HGNC:29601 CEP89 gene CEP89 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23575228 False 2 0;0;100 1.22 True ENSG00000121289 ENSG00000121289 HGNC:25907 CMPK2 gene CMPK2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36443312 False 2 0;100;0 1.22 True ENSG00000134326 ENSG00000134326 HGNC:27015 COX14 gene COX14 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22243966 False 2 0;100;0 1.22 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355;Hypertrophic cardiomyopathy;encephalopathy;severe fatal lactic acidosis Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33169484 False 2 0;100;0 1.22 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX5A gene COX5A Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064;pulmonary arterial hypertension;lactic acidemia;failure to thrive;isolated complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28247525;35246835 False 2 0;50;50 1.22 True ENSG00000178741 ENSG00000178741 HGNC:2267 CRAT gene CRAT Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29395073;31448845 False 2 0;100;0 1.22 True ENSG00000095321 ENSG00000095321 HGNC:2342 DNAJA3 gene DNAJA3 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, DNAJA3-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34750646;30770860;41354729 False 2 0;100;0 1.22 True ENSG00000103423 ENSG00000103423 HGNC:11808 ERAL1 gene ERAL1 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28449065 False 2 0;100;0 1.22 True ENSG00000132591 ENSG00000132591 HGNC:3424 EXOSC3 gene EXOSC3 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 1B 614678;Intellectual disability;Microcephaly;Hypotonia;Mitochondrial dysfunction" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28687512 False 2 0;100;0 1.22 True ENSG00000107371 ENSG00000107371 HGNC:17944 GATB gene GATB Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inborn mitochondrial metabolism disorder MONDO:0004069 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30283131;38703036 False 2 0;50;50 1.22 True ENSG00000059691 ENSG00000059691 HGNC:8849 IDH3B gene IDH3B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, MIM# 612572 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18806796;31736247 False 2 0;100;0 1.22 True ENSG00000101365 ENSG00000101365 HGNC:5385 LYRM4 gene LYRM4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, MIM# 615595 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23814038;31497476 False 2 0;100;0 1.22 True ENSG00000214113 ENSG00000214113 HGNC:21365 MARS2 gene MARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25754315 False 2 0;100;0 1.22 True ENSG00000247626 ENSG00000247626 HGNC:25133 MPC2 gene MPC2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36417180 False 2 0;100;0 1.22 True ENSG00000143158 ENSG00000143158 HGNC:24515 MRPL50 gene MRPL50 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 37148394 False 2 0;100;0 1.22 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS14 gene MRPS14 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 38, MIM# 618378" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30358850 False 2 0;100;0 1.22 True ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Australian Genomcis Health Alliance Leukodystrophy Flagship;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28749478;15505824 False 2 0;0;100 1.22 True ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS36 gene MRPS36 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 41018056;38685873 False 2 0;100;0 1.22 True ENSG00000134056 ENSG00000134056 HGNC:16631 MRPS7 gene MRPS7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25556185;36421788 False 2 0;50;50 1.22 True ENSG00000125445 ENSG00000125445 HGNC:14499 MT-ATP8 gene MT-ATP8 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial disease MONDO:0044970, MT-ATP8 related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 24153443;20207608;32858252;33340416;32858252;19759059;22919063 False 2 0;100;0 1.22 True ENSG00000228253 ENSG00000228253 HGNC:7415 MTERF3 gene MTERF3 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), MTERF3-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 40543543 False 2 0;100;0 1.22 True ENSG00000156469 ENSG00000156469 HGNC:24258 MT-ND4L gene MT-ND4L Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-ND4L-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 8680405;11935318;17003408;22879922;24568867 False 2 0;100;0 1.22 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-TC gene MT-TC Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 1.22 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TQ gene MT-TQ Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TQ-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 11171912;10996779;17003408;11335700 False 2 0;100;0 1.22 True ENSG00000210107 ENSG00000210107 HGNC:7495 NDUFA11 gene NDUFA11 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18306244;31074871 False 2 0;100;0 1.22 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272;Developmental delay;microcehaly;seizures Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32385911;33153867 False 2 0;100;0 1.22 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFB9 gene NDUFB9 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22200994;38129218 False 2 0;100;0 1.22 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC2 gene NDUFC2 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32969598 False 2 0;100;0 1.22 True ENSG00000151366 ENSG00000151366 HGNC:7706 P4HTM gene P4HTM Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25078763;30940925;34285383 False 2 0;100;0 1.22 True ENSG00000178467 ENSG00000178467 HGNC:28858 PCK2 gene PCK2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy (MONDO#0005244), PCK2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36845668 False 2 0;50;50 1.22 True ENSG00000100889 ENSG00000100889 HGNC:8725 RRM1 gene RRM1 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 35617047 False 2 0;100;0 1.22 True ENSG00000167325 ENSG00000167325 HGNC:10451 SLC25A10 gene SLC25A10 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intractable epileptic encephalopathy;Mitochondrial DNA depletion syndrome 19, MIM# 618972 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29211846 False 2 0;100;0 1.22 True ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome-18 MIM#618811 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29517768 False 2 0;100;0 1.22 True ENSG00000183032 ENSG00000183032 HGNC:14411 SLC39A8 gene SLC39A8 Expert Review Amber;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIn MIM#616721" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29453449;27995398 False 2 50;50;0 1.22 True ENSG00000138821 ENSG00000138821 HGNC:20862 SMDT1 gene SMDT1 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, SMDT1-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 37454773 False 2 0;100;0 1.22 True ENSG00000183172 ENSG00000183172 HGNC:25055 SQOR gene SQOR Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh-like disorder;Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32160317 False 2 0;100;0 1.22 True ENSG00000137767 ENSG00000137767 HGNC:20390 SUPV3L1 gene SUPV3L1 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 39596606;35023579 False 2 0;100;0 1.22 True ENSG00000156502 ENSG00000156502 HGNC:11471 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, TIMM22-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30452684 False 2 0;100;0 1.22 True ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, TMEM65-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28295037 False 2 0;100;0 1.22 True ENSG00000164983 ENSG00000164983 HGNC:25203 TOMM70 gene TOMM70 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, TOMM70-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31907385 False 2 0;100;0 1.22 True ENSG00000154174 ENSG00000154174 HGNC:11985 TXN2 gene TXN2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 29, MIM# 616811 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26626369;12529397 False 2 0;100;0 1.22 True ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC3 gene UQCC3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25008109;28804536 False 2 0;100;0 1.22 True ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRH gene UQCRH Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34750991 False 2 0;100;0 1.22 True ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18439546 False 2 0;100;0 1.22 True ENSG00000164405 ENSG00000164405 HGNC:29594 USMG5 gene USMG5 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29917077;30240627;40014158 False 2 0;100;0 1.22 True ENSG00000173915 ENSG00000173915 HGNC:30889 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302;Mitochondrial disease, MONDO:0044970, YME1L1-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30544562;27495975;40255048 False 2 0;100;0 1.22 True ENSG00000136758 ENSG00000136758 HGNC:12843