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  3. PNP
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Miscellaneous Metabolic 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.
Sources: Expert list
Created: 7 Feb 2021, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Feb 2021, 3:15 a.m.

Panel version: 0.282

Details

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

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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