Likely inborn error of metabolism - targeted testing not possible
Gene: PEPDComment 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 and as confirmed Gen2Phen gene. At least 11 variants reported.Created: 19 Aug 2019, 3:03 p.m. | Last Modified: 19 Aug 2019, 3:03 p.m.
Panel Version: 1.222
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 and as confirmed Gen2Phen gene. At least 11 variants reported.Created: 19 Aug 2019, 3:03 p.m. | Last Modified: 19 Aug 2019, 3:03 p.m.
Panel Version: 1.222
Comment on phenotypes: Prolidase deficiency (Other disorders of peptide metabolism)Created: 19 Aug 2019, 3:01 p.m. | Last Modified: 19 Aug 2019, 3:01 p.m.
Panel Version: 1.221
Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701
Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701
Publications for gene: PEPD were set to 27604308
Gene: pepd has been classified as Green List (High Evidence).
Gene: pepd has been classified as Green List (High Evidence).
Phenotypes for gene: PEPD were changed from Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) to Prolidase deficiency 170100
Source NHS GMS was added to PEPD. Source London North GLH was added to PEPD.
Sarah Leigh: Associated with relevant pheno
gene: PEPD was added gene: PEPD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 27604308 Phenotypes for gene: PEPD were set to Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism)