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 ACADM gene ACADM Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 False 1 0;0;100 4.27 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 False 1 0;0;100 4.27 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria, 610006 False 1 0;0;100 4.27 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 False 1 0;0;100 4.27 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, 203750 False 1 0;0;100 4.27 False ENSG00000075239 ENSG00000075239 HGNC:93 ATP5F1 gene ATP5F1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000116459 ENSG00000116459 HGNC:840 ATP5H gene ATP5H Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000167863 ENSG00000167863 HGNC:845 ATP5J2 gene ATP5J2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000241468 ENSG00000241468 HGNC:848 ATP5L gene ATP5L Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000167283 ENSG00000167283 HGNC:14247 ATP5L2 gene ATP5L2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000249222 ENSG00000249222 HGNC:13213 ATPAF1 gene ATPAF1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000123472 ENSG00000123472 HGNC:18803 C19orf12 gene C19orf12 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, 614298;?Spastic paraplegia 43, autosomal recessive, 615043 False 1 33;0;67 4.27 False ENSG00000131943 ENSG00000131943 HGNC:25443 CHKB gene CHKB Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, 602541 False 1 67;0;33 4.27 False ENSG00000100288 ENSG00000100288 HGNC:1938 CISD2 gene CISD2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2, 604928 False 1 0;0;100 4.27 False ENSG00000145354 ENSG00000145354 HGNC:24212 COA4 gene COA4 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000181924 ENSG00000181924 HGNC:24604 COASY gene COASY Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 12, 618266;Neurodegeneration with brain iron accumulation 6, 615643 False 1 0;0;100 4.27 False ENSG00000068120 ENSG00000068120 HGNC:29932 COX17 gene COX17 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000138495 ENSG00000138495 HGNC:2264 COX19 gene COX19 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 True ENSG00000240230 ENSG00000240230 HGNC:28074 COX6B2 gene COX6B2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000160471 ENSG00000160471 HGNC:24380 CPT1A gene CPT1A Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, 255120 False 1 0;0;100 4.27 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes 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 4.27 False ENSG00000157184 ENSG00000157184 HGNC:2330 D2HGDH gene D2HGDH Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721 False 1 0;0;100 4.27 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 False 1 33;33;33 4.27 False ENSG00000115866 ENSG00000115866 HGNC:2678 DCC gene DCC Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mirror movements 1 and/or agenesis of the corpus callosum, 157600;Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 False 1 0;50;50 4.27 False ENSG00000187323 ENSG00000187323 HGNC:2701 DHTKD1 gene DHTKD1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025;2-aminoadipic 2-oxoadipic aciduria, 204750 False 1 33;33;33 4.27 False ENSG00000181192 ENSG00000181192 HGNC:23537 ECSIT gene ECSIT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000130159 ENSG00000130159 HGNC:29548 ETFA gene ETFA Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA ,231680 False 1 0;0;100 4.27 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB ,231680 False 1 0;0;100 4.27 False ENSG00000105379 ENSG00000105379 HGNC:3482 FXN gene FXN Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 67;0;33 4.27 False ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 False 1 0;0;100 4.27 False ENSG00000131482 ENSG00000131482 HGNC:4056 GATM gene GATM Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 False 1 50;0;50 4.27 False ENSG00000171766 ENSG00000171766 HGNC:4175 GLUD1 gene GLUD1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinism-hyperammonemia syndrome, 606762 False 1 50;0;50 4.27 False ENSG00000148672 ENSG00000148672 HGNC:4335 HADH gene HADH Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 4, 609975;3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 False 1 0;0;100 4.27 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, 609015;LCHAD deficiency, 609016 False 1 0;0;100 4.27 False ENSG00000084754 ENSG00000084754 HGNC:4801 HMGCL gene HMGCL Expert Review Red;NHS GMS;Other Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450 False 1 50;0;50 4.27 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 False 1 0;0;100 4.27 False ENSG00000134240 ENSG00000134240 HGNC:5008 HTT gene HTT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Other Huntington disease, OMIM:143100 False 1 0;0;100 4.27 False ENSG00000197386 ENSG00000197386 HGNC:4851 IER3IP1 gene IER3IP1 Expert Review Red;NHS GMS;Other Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231 False 1 33;0;67 4.27 False ENSG00000134049 ENSG00000134049 HGNC:18550 L2HGDH gene L2HGDH Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 False 1 0;0;100 4.27 False ENSG00000087299 ENSG00000087299 HGNC:20499 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype 28837730 False 1 50;50;0 4.27 False ENSG00000003509 ENSG00000003509 HGNC:28816 NNT gene NNT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 27129361 False 1 33;33;33 4.27 True ENSG00000112992 ENSG00000112992 HGNC:7863 PDK3 gene PDK3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes 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 25;25;50 4.27 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDP2 gene PDP2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown None False 1 0;33;67 4.27 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown None False 1 33;33;33 4.27 False ENSG00000090857 ENSG00000090857 HGNC:30264 PITRM1 gene PITRM1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype 26697887;29764912;29383861 False 1 67;0;33 4.27 False ENSG00000107959 ENSG00000107959 HGNC:17663 PNPLA4 gene PNPLA4 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial X-LINKED: hemizygous mutation in males, biallelic mutations in females No OMIM phenotype 26741492 False 1 0;0;100 4.27 False ENSG00000006757 ENSG00000006757 HGNC:24887 PYCR1 gene PYCR1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIB, 614438;Cutis laxa, autosomal recessive, type IIB, 612940 False 1 50;0;50 4.27 False ENSG00000183010 ENSG00000183010 HGNC:9721 ROBO3 gene ROBO3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 False 1 50;0;50 4.27 False ENSG00000154134 ENSG00000154134 HGNC:13433 SAMHD1 gene SAMHD1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 False 1 33;0;67 4.27 False ENSG00000101347 ENSG00000101347 HGNC:15925 SDHAF3 gene SDHAF3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000196636 ENSG00000196636 HGNC:21752 SDHAF4 gene SDHAF4 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000154079 ENSG00000154079 HGNC:20957 SLC22A5 gene SLC22A5 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427 False 1 0;0;100 4.27 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II, 603471;Citrullinemia, type II, neonatal-onset 605814 False 1 50;0;50 4.27 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A20 gene SLC25A20 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, 212138 False 1 0;0;100 4.27 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304 19780765;15592994;24596948 False 1 33;33;33 4.27 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A40 gene SLC25A40 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 0;50;50 4.27 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC52A2 gene SLC52A2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, 614707 False 1 0;0;100 4.27 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, 211530 False 1 0;0;100 4.27 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLIRP gene SLIRP Expert Review Red;Literature Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency 34426662 False 1 0;0;100 4.27 False ENSG00000119705 ENSG00000119705 HGNC:20495 SRRT gene SRRT Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 0;0;100 4.27 False ENSG00000087087 ENSG00000087087 HGNC:24101 STAT2 gene STAT2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44, 616636 False 1 67;0;33 4.27 False ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLG2 gene SUCLG2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown None False 1 0;50;50 4.27 False ENSG00000172340 ENSG00000172340 HGNC:11450 TANGO2 gene TANGO2 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 False 1 50;0;50 4.27 False ENSG00000183597 ENSG00000183597 HGNC:25439 TIMM44 gene TIMM44 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 0;67;33 4.27 True ENSG00000104980 ENSG00000104980 HGNC:17316 TMEM126A gene TMEM126A Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7, 612989 False 1 50;0;50 4.27 False ENSG00000171202 ENSG00000171202 HGNC:25382 TRAP1 gene TRAP1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;0;50 4.27 False ENSG00000126602 ENSG00000126602 HGNC:16264 UQCC1 gene UQCC1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000101019 ENSG00000101019 HGNC:15891 UQCR10 gene UQCR10 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000184076 ENSG00000184076 HGNC:30863 UQCR11 gene UQCR11 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 4.27 False ENSG00000127540 ENSG00000127540 HGNC:30862 VPS13C gene VPS13C Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, 616840 False 1 50;0;50 4.27 False ENSG00000129003 ENSG00000129003 HGNC:23594 WFS1 gene WFS1 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal dominant 6/14/38, 600965;Wolfram-like syndrome, autosomal dominant, 614296;Wolfram syndrome 1, 222300 False 1 0;0;100 4.27 False ENSG00000109501 ENSG00000109501 HGNC:12762 XPNPEP3 gene XPNPEP3 Expert Review Red;NHS GMS Possible mitochondrial disorder - nuclear genes Mitochondrial BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, 613159 False 1 50;0;50 4.27 False ENSG00000196236 ENSG00000196236 HGNC:28052