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Severe combined immunodeficiency with PNP deficiency

Gene: PNP

Green List (high evidence)
PNP (purine nucleoside phosphorylase)
EnsemblGeneIds (GRCh38): ENSG00000198805
EnsemblGeneIds (GRCh37): ENSG00000198805
OMIM: 164050, Gene2Phenotype
PNP is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #613179) and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 12:58 p.m. | Last Modified: 29 Dec 2025, 12:58 p.m.
Panel Version: 1.2
PNP has been added to the panel for R234 Severe combined immunodeficiency with PNP deficiency with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:39 p.m. | Last Modified: 30 Jun 2023, 3:39 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 3:39 p.m.
Last Modified: 30 Jun 2023, 3:39 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency, OMIM:613179
  • purine nucleoside phosphorylase deficiency, MONDO:0013171
OMIM
164050
Clinvar variants
Variants in PNP
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: PNP were changed from to Immunodeficiency due to purine nucleoside phosphorylase deficiency, OMIM:613179; purine nucleoside phosphorylase deficiency, MONDO:0013171

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PNP was added gene: PNP was added to Severe combined immunodeficiency with PNP deficiency. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal