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Pyruvate dehydrogenase (PDH) deficiency v1.34 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Pyruvate dehydrogenase (PDH) deficiency v1.33 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Pyruvate dehydrogenase (PDH) deficiency v1.32 ECHS1 Arina Puzriakova Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563 to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Pyruvate dehydrogenase (PDH) deficiency v1.31 IBA57 Arina Puzriakova Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132 to Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330
Pyruvate dehydrogenase (PDH) deficiency v1.30 NFU1 Arina Puzriakova Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582 to Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711; Multiple mitochondrial dysfunctions syndrome 1, MONDO:0011582
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Deleted their comment
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh changed review comment from: Comment on phenotypes: There is no formal gene / disease association for PDP2.; to: Comment on phenotypes: There is no formal gene / disease association for PDP2, but pyruvate dehydrogenase deficiency MONDO:0019169 seemed a good generic phenotype for this gene.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Added comment: Comment on phenotypes: There is no formal gene / disease association for PDP2.
Pyruvate dehydrogenase (PDH) deficiency v1.29 PDP2 Sarah Leigh Phenotypes for gene: PDP2 were changed from to pyruvate dehydrogenase deficiency MONDO:0019169
Pyruvate dehydrogenase (PDH) deficiency v1.28 TPK1 Sarah Leigh Phenotypes for gene: TPK1 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) OMIM:614458; childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0013761
Pyruvate dehydrogenase (PDH) deficiency v1.27 SLC25A26 Sarah Leigh Phenotypes for gene: SLC25A26 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794 to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 OMIM:616794; combined oxidative phosphorylation deficiency 28 MONDO:0014775
Pyruvate dehydrogenase (PDH) deficiency v1.26 SLC25A19 Sarah Leigh Phenotypes for gene: SLC25A19 were changed from MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710 to 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
Pyruvate dehydrogenase (PDH) deficiency v1.25 SLC19A3 Sarah Leigh Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483 to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) OMIM:607483; biotin-responsive basal ganglia disease MONDO:0011841
Pyruvate dehydrogenase (PDH) deficiency v1.24 SLC19A2 Sarah Leigh Phenotypes for gene: SLC19A2 were changed from THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270 to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME OMIM:249270; thiamine-responsive megaloblastic anemia syndrome MONDO:0009575
Pyruvate dehydrogenase (PDH) deficiency v1.23 PDP1 Sarah Leigh Phenotypes for gene: PDP1 were changed from PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782 to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY OMIM:608782; pyruvate dehydrogenase phosphatase deficiency MONDO:0012120
Pyruvate dehydrogenase (PDH) deficiency v1.22 PDHX Sarah Leigh Phenotypes for gene: PDHX were changed from PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349 to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY OMIM:245349; pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009503
Pyruvate dehydrogenase (PDH) deficiency v1.21 PDHB Sarah Leigh Phenotypes for gene: PDHB were changed from PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111 to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY OMIM:614111; pyruvate dehydrogenase E1-beta deficiency MONDO:0013580
Pyruvate dehydrogenase (PDH) deficiency v1.20 PDHA1 Sarah Leigh Phenotypes for gene: PDHA1 were changed from PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170 to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY OMIM:312170; pyruvate dehydrogenase E1-alpha deficiency MONDO:0010717
Pyruvate dehydrogenase (PDH) deficiency v1.19 NFU1 Sarah Leigh Phenotypes for gene: NFU1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 OMIM:605711; multiple mitochondrial dysfunctions syndrome 1 MONDO:0011582
Pyruvate dehydrogenase (PDH) deficiency v1.18 LONP1 Sarah Leigh Phenotypes for gene: LONP1 were changed from CODAS syndrome, 600373 to CODAS syndrome OMIM:600373; CODAS syndrome MONDO:0010879
Pyruvate dehydrogenase (PDH) deficiency v1.17 LIPT2 Sarah Leigh Phenotypes for gene: LIPT2 were changed from ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668 to 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
Pyruvate dehydrogenase (PDH) deficiency v1.16 LIPT1 Sarah Leigh Phenotypes for gene: LIPT1 were changed from LIPOYLTRANSFERASE 1 DEFICIENCY, 616299 to LIPOYLTRANSFERASE 1 DEFICIENCY OMIM:616299; lipoyl transferase 1 deficiency MONDO:0014576
Pyruvate dehydrogenase (PDH) deficiency v1.15 ISCA2 Sarah Leigh Publications for gene: ISCA2 were set to
Pyruvate dehydrogenase (PDH) deficiency v1.14 ISCA2 Sarah Leigh Phenotypes for gene: ISCA2 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 OMIM:616370; multiple mitochondrial dysfunctions syndrome 4 MONDO:0014611
Pyruvate dehydrogenase (PDH) deficiency v1.13 ISCA1 Sarah Leigh Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
Pyruvate dehydrogenase (PDH) deficiency v1.12 ISCA1 Sarah Leigh Phenotypes for gene: ISCA1 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 OMIM:617613; multiple mitochondrial dysfunctions syndrome 5 MONDO:0033282
Pyruvate dehydrogenase (PDH) deficiency v1.11 IBA57 Sarah Leigh Phenotypes for gene: IBA57 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 OMIM:615330; multiple mitochondrial dysfunctions syndrome 3 MONDO:0014132
Pyruvate dehydrogenase (PDH) deficiency v1.10 HIBCH Sarah Leigh Phenotypes for gene: HIBCH were changed from 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620 to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620; 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Pyruvate dehydrogenase (PDH) deficiency v1.9 GLRX5 Sarah Leigh Phenotypes for gene: GLRX5 were changed from SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860 to 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
Pyruvate dehydrogenase (PDH) deficiency v1.8 FBXL4 Sarah Leigh Phenotypes for gene: FBXL4 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) OMIM:615471; mitochondrial DNA depletion syndrome 13 MONDO:0014198
Pyruvate dehydrogenase (PDH) deficiency v1.7 ECHS1 Sarah Leigh Phenotypes for gene: ECHS1 were changed from MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277 to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY OMIM:616277; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0014563
Pyruvate dehydrogenase (PDH) deficiency v1.6 DLD Sarah Leigh Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900 to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY OMIM:246900; pyruvate dehydrogenase E3 deficiency MONDO:0009529
Pyruvate dehydrogenase (PDH) deficiency v1.5 DLAT Sarah Leigh Phenotypes for gene: DLAT were changed from PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348 to PYRUVATE DEHYDROGENASE E2 DEFICIENCY OMIM:245348; pyruvate dehydrogenase E2 deficiency MONDO:0009502
Pyruvate dehydrogenase (PDH) deficiency v1.4 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299 to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA OMIM:614299; multiple mitochondrial dysfunctions syndrome 2 MONDO:0013675
Pyruvate dehydrogenase (PDH) deficiency v1.3 Sarah Leigh Panel version has been signed off
Pyruvate dehydrogenase (PDH) deficiency v1.1 Ellen McDonagh Panel version has been signed off
Pyruvate dehydrogenase (PDH) deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Pyruvate dehydrogenase (PDH) deficiency v0.8 Ellen McDonagh List of related panels changed from to R316
Pyruvate dehydrogenase (PDH) deficiency v0.7 Ellen McDonagh Panel types changed to GMS Rare Disease; GMS signed-off
Pyruvate dehydrogenase (PDH) deficiency v0.5 ISCA1 Ellen McDonagh Marked gene: ISCA1 as ready
Pyruvate dehydrogenase (PDH) deficiency v0.5 ISCA1 Ellen McDonagh Gene: isca1 has been classified as Green List (High Evidence).
Pyruvate dehydrogenase (PDH) deficiency v0.5 PDPR Ellen McDonagh Marked gene: PDPR as ready
Pyruvate dehydrogenase (PDH) deficiency v0.5 PDPR Ellen McDonagh Gene: pdpr has been classified as Red List (Low Evidence).
Pyruvate dehydrogenase (PDH) deficiency v0.5 LIPT2 Ellen McDonagh Marked gene: LIPT2 as ready
Pyruvate dehydrogenase (PDH) deficiency v0.5 LIPT2 Ellen McDonagh Gene: lipt2 has been classified as Green List (High Evidence).
Pyruvate dehydrogenase (PDH) deficiency v0.5 LIPT2 Ellen McDonagh Classified gene: LIPT2 as Green List (high evidence)
Pyruvate dehydrogenase (PDH) deficiency v0.5 LIPT2 Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Green. 3 patients (2 siblings) reported with biallelic variants in this gene and severe neonatal encephalopathy, with functional evidence supporting a mitochondrial lipoylation defect as well as this protein being in the same pathway as LIPT1.
Pyruvate dehydrogenase (PDH) deficiency v0.5 LIPT2 Ellen McDonagh Gene: lipt2 has been classified as Green List (High Evidence).
Pyruvate dehydrogenase (PDH) deficiency v0.4 PDPR Ellen McDonagh commented on gene: PDPR: Confirmed in the NHSE GMS Mitochondrial Specialist Group Meeting on 25th February 2019 that this should be Red, as no further published evidence has come out.
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDPR Ivone Leong reviewed gene: PDPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDP2 Ivone Leong reviewed gene: PDP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: None; Mode of inheritance: Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.3 TPK1 Ivone Leong reviewed gene: TPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC25A26 Ivone Leong reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC25A19 Ivone Leong reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710, MICROCEPHALY, AMISH TYPE, 607196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC19A3 Ivone Leong reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 SLC19A2 Ivone Leong reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDP1 Ivone Leong reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDHX Ivone Leong reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDHB Ivone Leong reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15138885, 18164639, 19924563; Phenotypes: PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 PDHA1 Ivone Leong reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Pyruvate dehydrogenase (PDH) deficiency v0.3 NFU1 Ivone Leong reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LONP1 Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30304514; Phenotypes: CODAS syndrome, 600373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LIPT2 Ivone Leong reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 28803783; Phenotypes: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LIPT1 Ivone Leong reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LIPOYLTRANSFERASE 1 DEFICIENCY, 616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 LIAS Ivone Leong reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 ISCA2 Ivone Leong reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 ISCA1 Ivone Leong reviewed gene: ISCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28356563, 29767723; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 IBA57 Ivone Leong reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 HIBCH Ivone Leong reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 GLRX5 Ivone Leong reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859, ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 FBXL4 Ivone Leong reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25868664; Phenotypes: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 ECHS1 Ivone Leong reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 DLD Ivone Leong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 DLAT Ivone Leong reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.3 BOLA3 Ivone Leong reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDPR Ivone Leong gene: PDPR was added
gene: PDPR was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS
Mode of inheritance for gene: PDPR was set to Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDP2 Ivone Leong gene: PDP2 was added
gene: PDP2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: NHS GMS
Mode of inheritance for gene: PDP2 was set to Unknown
Pyruvate dehydrogenase (PDH) deficiency v0.2 TPK1 Ivone Leong gene: TPK1 was added
gene: TPK1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPK1 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC25A26 Ivone Leong gene: SLC25A26 was added
gene: SLC25A26 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A26 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, 616794
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC25A19 Ivone Leong gene: SLC25A19 was added
gene: SLC25A19 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to MICROCEPHALY, AMISH TYPE, 607196; THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC19A3 Ivone Leong gene: SLC19A3 was added
gene: SLC19A3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE), 607483
Pyruvate dehydrogenase (PDH) deficiency v0.2 SLC19A2 Ivone Leong gene: SLC19A2 was added
gene: SLC19A2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, 249270
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDP1 Ivone Leong gene: PDP1 was added
gene: PDP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, 608782
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDHX Ivone Leong gene: PDHX was added
gene: PDHX was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHX were set to PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY, 245349
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDHB Ivone Leong gene: PDHB was added
gene: PDHB was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHB were set to 18164639; 15138885; 19924563
Phenotypes for gene: PDHB were set to PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, 614111
Pyruvate dehydrogenase (PDH) deficiency v0.2 PDHA1 Ivone Leong gene: PDHA1 was added
gene: PDHA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDHA1 were set to PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, 312170
Pyruvate dehydrogenase (PDH) deficiency v0.2 NFU1 Ivone Leong gene: NFU1 was added
gene: NFU1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, 605711
Pyruvate dehydrogenase (PDH) deficiency v0.2 LONP1 Ivone Leong gene: LONP1 was added
gene: LONP1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to 30304514
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
Pyruvate dehydrogenase (PDH) deficiency v0.2 LIPT2 Ivone Leong gene: LIPT2 was added
gene: LIPT2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203; 28803783
Phenotypes for gene: LIPT2 were set to ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES, 617668
Pyruvate dehydrogenase (PDH) deficiency v0.2 LIPT1 Ivone Leong gene: LIPT1 was added
gene: LIPT1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to LIPOYLTRANSFERASE 1 DEFICIENCY, 616299
Pyruvate dehydrogenase (PDH) deficiency v0.2 LIAS Ivone Leong gene: LIAS was added
gene: LIAS was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 614462
Pyruvate dehydrogenase (PDH) deficiency v0.2 ISCA2 Ivone Leong gene: ISCA2 was added
gene: ISCA2 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, 616370
Pyruvate dehydrogenase (PDH) deficiency v0.2 ISCA1 Ivone Leong gene: ISCA1 was added
gene: ISCA1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 29767723; PMID: 28356563
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Pyruvate dehydrogenase (PDH) deficiency v0.2 IBA57 Ivone Leong gene: IBA57 was added
gene: IBA57 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, 615330
Pyruvate dehydrogenase (PDH) deficiency v0.2 HIBCH Ivone Leong gene: HIBCH was added
gene: HIBCH was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Pyruvate dehydrogenase (PDH) deficiency v0.2 GLRX5 Ivone Leong gene: GLRX5 was added
gene: GLRX5 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRX5 were set to SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, 616859; ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY, 616860
Pyruvate dehydrogenase (PDH) deficiency v0.2 FBXL4 Ivone Leong gene: FBXL4 was added
gene: FBXL4 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 25868664
Phenotypes for gene: FBXL4 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
Pyruvate dehydrogenase (PDH) deficiency v0.2 ECHS1 Ivone Leong gene: ECHS1 was added
gene: ECHS1 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277
Pyruvate dehydrogenase (PDH) deficiency v0.2 DLD Ivone Leong gene: DLD was added
gene: DLD was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, 246900
Pyruvate dehydrogenase (PDH) deficiency v0.2 DLAT Ivone Leong gene: DLAT was added
gene: DLAT was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY, 245348
Pyruvate dehydrogenase (PDH) deficiency v0.2 BOLA3 Ivone Leong gene: BOLA3 was added
gene: BOLA3 was added to Pyruvate dehydrogenase (PDH) deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, 614299
Pyruvate dehydrogenase (PDH) deficiency v0.0 Ellen McDonagh Added Panel Pyruvate dehydrogenase (PDH) deficiency
Set panel types to: GMS Rare Disease