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Likely inborn error of metabolism - targeted testing not possible v1.220 | PDPR |
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 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.; 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 a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065. |
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Likely inborn error of metabolism - targeted testing not possible v1.220 | PDPR | Sarah Leigh Mode of inheritance for gene: PDPR was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.219 | PDPR | Sarah Leigh Classified gene: PDPR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.219 | PDPR |
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 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065. |
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Likely inborn error of metabolism - targeted testing not possible v1.219 | PDPR | Sarah Leigh Gene: pdpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.218 | PDPR | Sarah Leigh Added comment: Comment on phenotypes: Global developmental delay, typical Joubert syndrome, according to PMID 25558065. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.218 | PDPR | Sarah Leigh Phenotypes for gene: PDPR were changed from Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.217 | PDPR | Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.216 | PDPR | Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | PDPR |
Ivone Leong Source NHS GMS was added to PDPR. Source London North GLH was added to PDPR. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDPR |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) for gene: PDPR Publications for gene PDPR were changed from PMID: 25558065 to 27604308; 25558065 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDPR |
Ellen McDonagh gene: PDPR was added gene: PDPR was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDPR were set to PMID: 25558065 |