XDH:Ensemblv115

xanthine dehydrogenase
OMIM: 607633, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green XDH in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Xanthinuria, type I (MIM#278300)

Green XDH in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • xanthinuria type I MONDO:0010209
  • Disorders of purine metabolism