PNP

purine nucleoside phosphorylase
OMIM: 164050
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
R-numbers: R15
Signed-off version 5.0
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
R-numbers: R234
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes