This Panel is marked as Retired
SCID
Gene: PNP
PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 7 panels
5 reviews
Kimberly Gilmour (Great Ormond Street Hopsital)
Sophie Hambleton (Newcastle University)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tracy Briggs (Manchester Genomic Medicine Centre)
Peter Arkwright (Royal Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to 4 reviewers agreeing.Created: 20 May 2016, 2:18 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- T-B+ SCID
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
- OMIM
- 164050
- Clinvar variants
- Variants in PNP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
20 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 May 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PNP were set to T-B+ SCID; Immunodeficiency due to purine nucleoside phosphorylase deficiency
20 May 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PNP was changed to BIALLELIC, autosomal or pseudoautosomal
20 May 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PNP was added to SCIDpanel. Sources: Emory Genetics Laboratory