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Inborn errors of metabolism

Gene: PNP

Green List (high evidence)

PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

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 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
OMIM
164050
Clinvar variants
Variants in PNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PNP were set to 27604308; 3029074; 1384322; 9067751; 8931706; 9737781; 11453975

19 Aug 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PNP were set to 27604308

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pnp has been classified as Green List (High Evidence).

19 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pnp has been classified as Green List (High Evidence).

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PNP. Source London North GLH was added to PNP.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)