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 0.969 True ENSG00000122971 ENSG00000122971 HGNC:90 APOO gene APOO Expert Review Amber;Literature Mitochondrial disease Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial disease, MONDO:0044970, APOO-related;Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32439808;37649161 False 2 0;67;33 0.969 True ENSG00000184831 ENSG00000184831 HGNC:28727 ATP5A1 gene ATP5A1 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228;Mitochondrial disorder, autosomal dominant Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23599390;34483339 False 2 0;100;0 0.969 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber;Literature Mitochondrial disease Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited dystonia, MONDO:0044807, ATP5B-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36860166;36239646 False 2 0;100;0 0.969 True ENSG00000110955 ENSG00000110955 HGNC:830 CEP89 gene CEP89 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23575228 False 2 0;0;100 0.969 True ENSG00000121289 ENSG00000121289 HGNC:25907 CMPK2 gene CMPK2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36443312 False 2 0;100;0 0.969 True ENSG00000134326 ENSG00000134326 HGNC:27015 COX14 gene COX14 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22243966 False 2 0;100;0 0.969 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355;Hypertrophic cardiomyopathy;encephalopathy;severe fatal lactic acidosis Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33169484 False 2 0;100;0 0.969 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX4I1 gene COX4I1 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060;regression;seizures;short stature;mild dysmorphic features;Fanconi anemia Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28766551;22592081;31290619 False 2 0;50;50 0.969 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064;pulmonary arterial hypertension;lactic acidemia;failure to thrive;isolated complex IV deficiency Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28247525;35246835 False 2 0;50;50 0.969 True ENSG00000178741 ENSG00000178741 HGNC:2267 CRAT gene CRAT Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29395073;31448845 False 2 0;100;0 0.969 True ENSG00000095321 ENSG00000095321 HGNC:2342 ERAL1 gene ERAL1 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28449065 False 2 0;100;0 0.969 True ENSG00000132591 ENSG00000132591 HGNC:3424 EXOSC3 gene EXOSC3 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 1B 614678;Intellectual disability;Microcephaly;Hypotonia;Mitochondrial dysfunction" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28687512 False 2 0;100;0 0.969 True ENSG00000107371 ENSG00000107371 HGNC:17944 IDH3B gene IDH3B Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, MIM# 612572 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18806796;31736247 False 2 0;100;0 0.969 True ENSG00000101365 ENSG00000101365 HGNC:5385 LYRM4 gene LYRM4 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, MIM# 615595 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 23814038;31497476 False 2 0;100;0 0.969 True ENSG00000214113 ENSG00000214113 HGNC:21365 MARS2 gene MARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25754315 False 2 0;100;0 0.969 True ENSG00000247626 ENSG00000247626 HGNC:25133 MPC2 gene MPC2 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36417180 False 2 0;100;0 0.969 True ENSG00000143158 ENSG00000143158 HGNC:24515 MRPL50 gene MRPL50 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 37148394 False 2 0;100;0 0.969 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS14 gene MRPS14 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 38, MIM# 618378" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30358850 False 2 0;100;0 0.969 True ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Australian Genomcis Health Alliance Leukodystrophy Flagship;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28749478;15505824 False 2 0;0;100 0.969 True ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25556185;36421788 False 2 0;50;50 0.969 True ENSG00000125445 ENSG00000125445 HGNC:14499 NDUFA11 gene NDUFA11 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18306244;31074871 False 2 0;100;0 0.969 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272;Developmental delay;microcehaly;seizures Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32385911;33153867 False 2 0;100;0 0.969 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFB7 gene NDUFB7 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital lactic acidosis;hypertrophic cardiomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 33502047;27626371 False 2 0;100;0 0.969 True ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB9 gene NDUFB9 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 22200994;38129218 False 2 0;100;0 0.969 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC2 gene NDUFC2 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32969598 False 2 0;100;0 0.969 True ENSG00000151366 ENSG00000151366 HGNC:7706 NNT gene NNT Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26309815;22634753 False 2 67;33;0 0.969 True ENSG00000112992 ENSG00000112992 HGNC:7863 NSUN3 gene NSUN3 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, MIM# 619012 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 27356879;32488845 False 2 0;100;0 0.969 True ENSG00000178694 ENSG00000178694 HGNC:26208 OXA1L gene OXA1L Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy;hypotonia;developmental delay Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30201738 False 2 0;100;0 0.969 True ENSG00000155463 ENSG00000155463 HGNC:8526 P4HTM gene P4HTM Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25078763;30940925;34285383 False 2 0;100;0 0.969 True ENSG00000178467 ENSG00000178467 HGNC:28858 RRM1 gene RRM1 Expert list;Expert Review Amber Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 PMID: 35617047 False 2 0;100;0 0.969 True ENSG00000167325 ENSG00000167325 HGNC:10451 SLC25A10 gene SLC25A10 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intractable epileptic encephalopathy;Mitochondrial DNA depletion syndrome 19, MIM# 618972 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29211846 False 2 0;100;0 0.969 True ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome-18 MIM#618811 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29517768 False 2 0;100;0 0.969 True ENSG00000183032 ENSG00000183032 HGNC:14411 SLC39A8 gene SLC39A8 Expert Review Amber;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIn MIM#616721" Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29453449;27995398 False 2 50;50;0 0.969 True ENSG00000138821 ENSG00000138821 HGNC:20862 SQOR gene SQOR Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh-like disorder;Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 32160317 False 2 0;100;0 0.969 True ENSG00000137767 ENSG00000137767 HGNC:20390 TIMM22 gene TIMM22 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypotonia;gastroesophageal reflux disease Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30452684 False 2 0;100;0 0.969 True ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 28295037 False 2 0;100;0 0.969 True ENSG00000164983 ENSG00000164983 HGNC:25203 TOMM7 gene TOMM7 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, MIM# 620601 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 36299998;36282599 False 2 0;100;0 0.969 True ENSG00000196683 ENSG00000196683 HGNC:21648 TOMM70 gene TOMM70 Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Severe anaemia;Lactic acidosis;Developmental delay Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 31907385 False 2 0;100;0 0.969 True ENSG00000154174 ENSG00000154174 HGNC:11985 TXN2 gene TXN2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 29, MIM# 616811 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 26626369;12529397 False 2 0;100;0 0.969 True ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC3 gene UQCC3 Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 25008109;28804536 False 2 0;100;0 0.969 True ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRH gene UQCRH Expert Review Amber;Literature Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 34750991 False 2 0;100;0 0.969 True ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Amber;Victorian Clinical Genetics Services Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 18439546 False 2 0;100;0 0.969 True ENSG00000164405 ENSG00000164405 HGNC:29594 USMG5 gene USMG5 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 29917077;30240627 False 2 0;100;0 0.969 True ENSG00000173915 ENSG00000173915 HGNC:30889 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS Mitochondrial disease Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302 Increased serum lactate;HP:0002151; Abnormality of mitochondrial metabolism;HP:0003287 30544562;27495975 False 2 0;100;0 0.969 True ENSG00000136758 ENSG00000136758 HGNC:12843