PNP

purine nucleoside phosphorylase
OMIM: 164050
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
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