Renal Tubulopathies and related disorders

Gene: XDH

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Disorder causes excretion of large amounts of xanthine in the urine and a tendency to form xanthine stones. 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, 9:52 a.m. | Last Modified: 6 Jul 2021, 9:52 a.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Xanthinuria, type I (MIM#278300)

Publications

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xanthinuria, type I (MIM#278300)
OMIM
607633
Clinvar variants
Variants in XDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XDH was added gene: XDH was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XDH were set to 32071838 Phenotypes for gene: XDH were set to Xanthinuria, type I (MIM#278300)