Renal Tubulopathies and related disorders
Gene: XDHEnsemblGeneIds (GRCh38): ENSG00000158125
EnsemblGeneIds (GRCh37): ENSG00000158125
OMIM: 607633, Gene2Phenotype
XDH is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
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)