Likely inborn error of metabolism - targeted testing not possible
Gene: PNPComment 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 10 variants reported.Created: 19 Aug 2019, 3:59 p.m. | Last Modified: 19 Aug 2019, 3:59 p.m.
Panel Version: 1.237
Comment on phenotypes: SCID;Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)Created: 19 Aug 2019, 3:57 p.m. | Last Modified: 19 Aug 2019, 3:57 p.m.
Panel Version: 1.236
Publications for gene: PNP were set to 27604308; 3029074; 1384322; 9067751; 8931706; 9737781; 11453975
Publications for gene: PNP were set to 27604308
Gene: pnp has been classified as Green List (High Evidence).
Gene: pnp has been classified as Green List (High Evidence).
Phenotypes for gene: PNP were changed from SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Source NHS GMS was added to PNP. Source London North GLH was added to PNP.
Sarah Leigh: Associated with relevant pheno
gene: PNP was added gene: PNP was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to 27604308 Phenotypes for gene: PNP were set to SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)