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BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Decreased T cell function - SCID immunodeficiency
variable neurological phenotype
childhood onset
Treat bone marrow transplant
Sources: Expert list
Created: 3 Mar 2023, 8:25 p.m.

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 list
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179
Tags
treatable immunological
OMIM
164050
Clinvar variants
Variants in PNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2023, 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).

5 Mar 2023, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PNP. Tag immunological tag was added to gene: PNP.

5 Mar 2023, 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).

3 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: PNP was added gene: PNP was added to gNBS. Sources: Expert list Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNP were set to PMID: 35968787, PMID: 35063692, PMID: 30885031, PMID: 1931007, PMID: 28674683 Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179 Review for gene: PNP was set to GREEN