Likely inborn error of metabolism
Gene: XDH

XDH (xanthine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000158125
EnsemblGeneIds (GRCh37): ENSG00000158125
OMIM: 607633, Gene2Phenotype
XDH is in 4 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

Created: 23 Feb 2017, 5:17 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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

27604308

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