Genomics England
GMS Panels
Panels
Genes and Entities

APRT

adenine phosphoribosyltransferase
OMIM: 102600
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenine phosphoribosyltransferase deficiency 614723, Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenine phosphoribosyltransferase deficiency 614723