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 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 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