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Likely inborn error of metabolism - targeted testing not possible v3.6 PDK3 Achchuthan Shanmugasundram Tag Q1_22_phenotype was removed from gene: PDK3.
Tag Q2_22_rating was removed from gene: PDK3.
Tag Q2_22_expert_review was removed from gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v3.6 PDK3 Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.5 PDK3 Achchuthan Shanmugasundram Source Expert Review Green was added to PDK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.257 PDK3 Sarah Leigh Tag Q2_22_rating tag was added to gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v2.257 PDK3 Sarah Leigh Tag Q2_22_expert_review tag was added to gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v2.213 PDK3 Arina Puzriakova Publications for gene: PDK3 were set to 27604308; 26801680; 28902413; 23297365
Likely inborn error of metabolism - targeted testing not possible v2.212 PDK3 Arina Puzriakova Tag Q1_22_phenotype tag was added to gene: PDK3.
Likely inborn error of metabolism - targeted testing not possible v2.212 PDK3 Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413, 32504000, 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism - targeted testing not possible v1.425 PDK3 Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.
The phenotype of ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905, is not relevant to the "Inborn errors of metabolism" panel, which is why it is rated Amber (clinical opinion of Helen Britain, GEL Clinical Fellow).
Likely inborn error of metabolism - targeted testing not possible v1.313 PDK3 Sarah Leigh Classified gene: PDK3 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.313 PDK3 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least three unrelated cases, together with functional studies.
Likely inborn error of metabolism - targeted testing not possible v1.313 PDK3 Sarah Leigh Gene: pdk3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.312 PDK3 Sarah Leigh Added comment: Comment on mode of pathogenicity: A gain of function mechanism has been reported for the p.R158H variant, resulting in a more activity than the wild-type kinase (PMID: 23297365).
Likely inborn error of metabolism - targeted testing not possible v1.312 PDK3 Sarah Leigh Mode of pathogenicity for gene: PDK3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Likely inborn error of metabolism - targeted testing not possible v1.311 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308; 26801680; 28902413
Likely inborn error of metabolism - targeted testing not possible v1.310 PDK3 Sarah Leigh Publications for gene: PDK3 were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v1.309 PDK3 Sarah Leigh Added comment: Comment on phenotypes: Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism)
Likely inborn error of metabolism - targeted testing not possible v1.309 PDK3 Sarah Leigh Phenotypes for gene: PDK3 were changed from ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) to ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905
Likely inborn error of metabolism - targeted testing not possible v1.47 PDK3 Ivone Leong Source NHS GMS was added to PDK3.
Source London North GLH was added to PDK3.
Likely inborn error of metabolism - targeted testing not possible v0.4 PDK3 Ellen McDonagh Added phenotypes ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905; Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK3
Publications for gene PDK3 were changed from to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 PDK3 Ellen McDonagh gene: PDK3 was added
gene: PDK3 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PDK3 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: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905