Genomics England
GMS Panels
Panels
Genes and Entities

XDH

xanthine dehydrogenase
OMIM: 607633
PanelMode of inheritanceDetails
3 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
Xanthinuria type II (Disorders of purine metabolism), Xanthinuria type I (Disorders of purine metabolism)
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xanthinuria, type I, 278300
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Xanthinuria, type I, 278300