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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