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 BOLA3 gene BOLA3 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299;multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675 False 3 100;0;0 1.39 False ENSG00000163170 ENSG00000163170 HGNC:24415 DLAT gene DLAT Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348;pyruvate dehydrogenase E2 deficiency MONDO:0009502 False 3 100;0;0 1.39 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900;pyruvate dehydrogenase E3 deficiency MONDO:0009529 False 3 100;0;0 1.39 False ENSG00000091140 ENSG00000091140 HGNC:2898 ECHS1 gene ECHS1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 1.39 False ENSG00000127884 ENSG00000127884 HGNC:3151 FBXL4 gene FBXL4 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 25868664 False 3 100;0;0 1.39 False ENSG00000112234 ENSG00000112234 HGNC:13601 GLRX5 gene GLRX5 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA OMIM:616859;spasticity-ataxia-gait anomalies syndrome MONDO:0014803;ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY OMIM:616860;sideroblastic anemia 3 MONDO:0014804 False 3 100;0;0 1.39 False ENSG00000182512 ENSG00000182512 HGNC:20134 HIBCH gene HIBCH Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620;3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 False 3 100;0;0 1.39 False ENSG00000198130 ENSG00000198130 HGNC:4908 IBA57 gene IBA57 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 False 3 100;0;0 1.39 False ENSG00000181873 ENSG00000181873 HGNC:27302 ISCA1 gene ISCA1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613;multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282 29767723;28356563 False 3 100;0;0 1.39 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370;multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611 29359243 False 3 100;0;0 1.39 False ENSG00000165898 ENSG00000165898 HGNC:19857 LIAS gene LIAS Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462 False 3 100;0;0 1.39 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIPT1 gene LIPT1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299;lipoyl transferase 1 deficiency MONDO:0014576 False 3 100;0;0 1.39 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668;encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities MONDO:0060562 28757203;28803783 False 3 25;75;0 1.39 True ENSG00000175536 ENSG00000175536 HGNC:37216 LONP1 gene LONP1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal CODAS syndrome OMIM:600373;CODAS syndrome MONDO:0010879 30304514 False 3 100;0;0 1.39 False ENSG00000196365 ENSG00000196365 HGNC:9479 NFU1 gene NFU1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Multiple mitochondrial dysfunctions syndrome 1, MONDO:0011582 False 3 100;0;0 1.39 False ENSG00000169599 ENSG00000169599 HGNC:16287 PDHA1 gene PDHA1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170;pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717 False 3 100;0;0 1.39 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 18164639;15138885;19924563 False 3 100;0;0 1.39 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 False 3 100;0;0 1.39 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782;pyruvate dehydrogenase phosphatase deficiency MONDO:0012120 False 3 100;0;0 1.39 False ENSG00000164951 ENSG00000164951 HGNC:9279 SLC19A2 gene SLC19A2 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 3 100;0;0 1.39 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483;biotin-responsive basal ganglia disease MONDO:0011841 False 3 100;0;0 1.39 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC25A19 gene SLC25A19 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, AMISH TYPEOMIM:607196;Amish lethal microcephaly MONDO:0011790;THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) OMIM:613710;progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 False 3 100;0;0 1.39 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A26 gene SLC25A26 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794;combined oxidative phosphorylation deficiency 28 MONDO:0014775 False 3 100;0;0 1.39 False ENSG00000144741 ENSG00000144741 HGNC:20661 TPK1 gene TPK1 Expert Review Green;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458;childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761 False 3 100;0;0 1.39 False ENSG00000196511 ENSG00000196511 HGNC:17358 PDP2 gene PDP2 NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial Unknown pyruvate dehydrogenase deficiency MONDO:0019169 False 1 0;33;67 1.39 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;NHS GMS Pyruvate dehydrogenase (PDH) deficiency Mitochondrial Unknown False 1 33;33;33 1.39 True ENSG00000090857 ENSG00000090857 HGNC:30264