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
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenine phosphoribosyltransferase deficiency 614723, Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism)
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenine phosphoribosyltransferase deficiency 614723