APRT

adenine phosphoribosyltransferase
OMIM: 102600
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
Adenine phosphoribosyltransferase deficiency 614723, Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenine phosphoribosyltransferase deficiency 614723