Nucleotide metabolism disorders
Gene: XDH

XDH (xanthine dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000158125
EnsemblGeneIds (GRCh37): ENSG00000158125
OMIM: 607633, Gene2Phenotype
XDH is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

16 unique variants listed, including 1x CNV (exon 2-4 de)
variable age of onset and severity reported. In 1 family, the 3 affecteds were asymptomatic but had zero levels of UA in urine and serum when tested (proband was assessed due to neurogenic bladder)
Created: 6 Jul 2021, 6:28 a.m. | Last Modified: 6 Jul 2021, 6:28 a.m.

Panel Version: 0.8223

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xanthinuria, type I (MIM#278300)

Publications

32071838

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jul 2021, 6:28 a.m.
Last Modified: 6 Jul 2021, 6:28 a.m.
Panel version: Imported from Mendeliome panel version 0.8223

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

xanthinuria type I MONDO:0010209
Disorders of purine metabolism

OMIM

607633

Clinvar variants

Variants in XDH

Penetrance

None

Publications

Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: XDH was added gene: XDH was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XDH were set to 32071838; 29723117 Phenotypes for gene: XDH were set to xanthinuria type I MONDO:0010209; Disorders of purine metabolism

Nucleotide metabolism disorders Gene: XDH