Combined Immunodeficiency
Gene: PNP

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

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

Over 30 individuals with 24 unique PNP variants have been reported; two mouse models

Homozygous and compound heterozygous variants (missense, nonsense, deletion, frameshift, splice site) resulting in LoF

Clinically, individuals typically present with severe immunodeficiency, neurological impairment, and autoimmunity.
Created: 10 Aug 2021, 12:29 a.m. | Last Modified: 10 Aug 2021, 12:29 a.m.

Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179; Autoimmune hemolytic anaemia; neurological impairment; SCID; CID; hypouricaemia; failure to thrive; chronic diarrhoea; recurrent respiratory/ gastrointestinal infections; normal-low Ig levels; spastic paresis; tremor; ataxia; DD

Publications

Created: 10 Aug 2021, 12:29 a.m.
Last Modified: 10 Aug 2021, 12:29 a.m.
Panel version: 0.291

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179
Autoimmune hemolytic anaemia
neurological impairment
SCID
CID
hypouricaemia
failure to thrive
chronic diarrhoea
recurrent respiratory/ gastrointestinal infections
normal-low Ig levels
spastic paresis
tremor
ataxia
DD

OMIM

164050

Clinvar variants

Variants in PNP

Penetrance

None

Publications

Panels with this gene