Likely inborn error of metabolism - targeted testing not possible
Gene: PDPRComment 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.Created: 19 Aug 2019, 2:45 p.m. | Last Modified: 19 Aug 2019, 2:56 p.m.
Panel Version: 1.220
Comment on phenotypes: Global developmental delay, typical Joubert syndrome, according to PMID 25558065.Created: 19 Aug 2019, 2:42 p.m. | Last Modified: 19 Aug 2019, 2:42 p.m.
Panel Version: 1.218
No information on OMIM. Ensembl indicates one case of Joubert syndromeCreated: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
Unknown
Phenotypes
Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Publications
Comment on list classification: 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.Created: 25 Feb 2019, 3:56 p.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).Created: 13 Nov 2015, 3:15 p.m.
Manuscript is in press (personal communication)Created: 29 Sep 2015, 7:14 a.m.
Mode of inheritance for gene: PDPR was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Gene: pdpr has been classified as Red List (Low Evidence).
Phenotypes for gene: PDPR were changed from Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Publications for gene: PDPR were set to 27604308; 25558065
Publications for gene: PDPR were set to 27604308; 25558065
Source NHS GMS was added to PDPR. Source London North GLH was added to PDPR.
Sarah Leigh: Associated with relevant pheno
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
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