PNP

purine nucleoside phosphorylase
OMIM: 164050, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PNP in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Phenotypes Combined immunodeficiency Autoimmune haemolytic anemia, neurological impairment Immunodeficiency due to purine nucleoside phosphorylase deficiency Atypical Severe Combined Immunodeficiency (Atypical SCID) T-B+ SCID Combined immunodeficiencies with associated or syndromic features
Green PNP in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency T-B+ SCID Atypical Severe Combined Immunodeficiency (Atypical SCID) Combined immunodeficiency Autoimmune haemolytic anemia, neurological impairment Combined immunodeficiencies with associated or syndromic features
Green PNP in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Green PNP in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Red PNP in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179
Red PNP in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green PNP in Severe combined immunodeficiency with PNP deficiency Level 2: Immunology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	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