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| Likely inborn error of metabolism - targeted testing not possible v1.311 | PDK1 |
Sarah Leigh changed review comment from: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned.; 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. Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned. |
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| Likely inborn error of metabolism - targeted testing not possible v1.308 | PDK1 | Sarah Leigh Classified gene: PDK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.308 | PDK1 | Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. PDK1 is mentioned in the supplimentary material in PMID 27604308, however, no details of variants nor phenotypes are mentioned. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.308 | PDK1 | Sarah Leigh Gene: pdk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PDK1 |
Ivone Leong Source NHS GMS was added to PDK1. Source London North GLH was added to PDK1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK1 |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) for gene: PDK1 Publications for gene PDK1 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PDK1 |
Ellen McDonagh gene: PDK1 was added gene: PDK1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDK1 was set to Unknown Phenotypes for gene: PDK1 were set to No OMIM phenotype |
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