Nucleotide metabolism disorders

Gene: PNP

Green List (high evidence)

PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment. Severity and age of onset dependent on amount of residual activity. Multiple families reported.
Created: 7 Feb 2021, 3:16 a.m. | Last Modified: 7 Feb 2021, 3:16 a.m.
Panel Version: 0.6250

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
  • Disorders of purine metabolism
OMIM
164050
Clinvar variants
Variants in PNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PNP was added gene: PNP was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to 1384322; 11453975; 32695102; 3029074; 32514656 Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Disorders of purine metabolism