Nucleotide metabolism disorders
Gene: PNP
PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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