XDH

xanthine dehydrogenase
OMIM: 607633, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green XDH in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.13
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Xanthinuria, type I, 278300

    Green XDH in Unexplained paediatric onset end-stage renal disease


    Version 1.10
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Xanthinuria, type I, 278300

    Green XDH in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.418

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Xanthinuria type I (Disorders of purine metabolism)
    • Xanthinuria type II (Disorders of purine metabolism)

    Green XDH in Inborn errors of metabolism


    Version 2.15
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Xanthinuria type II (Disorders of purine metabolism)
    • Xanthinuria type I (Disorders of purine metabolism)

    Red XDH in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green XDH in Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS


    Level 2: Renal and urinary tract disorders
    Version 0.3

    review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green XDH in Severe Paediatric Disorders


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Xanthinuria, type I, 278300