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Inborn errors of metabolism

Gene: XDH

Green List (high evidence)

XDH (xanthine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000158125
EnsemblGeneIds (GRCh37): ENSG00000158125
OMIM: 607633, Gene2Phenotype
XDH is in 5 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Renal stones, myopathy, abnormal urinary excretion profiles therefore may present to metabolic. Three families identified (2 variants) so considered sufficient evidence
Created: 23 Feb 2017, 5:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xanthinuria type I (Disorders of purine metabolism); Xanthinuria type II (Disorders of purine metabolism)

Publications

Details

Mode of Inheritance
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)
OMIM
607633
Clinvar variants
Variants in XDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to XDH. Source London North GLH was added to XDH.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: XDH was added gene: XDH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XDH were set to 27604308 Phenotypes for gene: XDH were set to Xanthinuria type II (Disorders of purine metabolism); Xanthinuria type I (Disorders of purine metabolism)