Renal Tubulopathies and related disorders
Gene: SLC2A9EnsemblGeneIds (GRCh38): ENSG00000109667
EnsemblGeneIds (GRCh37): ENSG00000109667
OMIM: 606142, Gene2Phenotype
SLC2A9 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure (EIARF) and nephrolithiasis. Multiple families reported, particularly with bi-allelic variants.Created: 2 Apr 2022, 2:32 a.m. | Last Modified: 2 Apr 2022, 2:32 a.m.
Panel Version: 0.59
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypouricaemia, renal, 2, MIM# 612076
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_Tubulopathies v38.1.0
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypouricaemia, renal, 2, MIM# 612076
- OMIM
- 606142
- Clinvar variants
- Variants in SLC2A9
- 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: SLC2A9 was added gene: SLC2A9 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SLC2A9 were set to 19926891; 25966807; 21256783; 19026395; 21810765 Phenotypes for gene: SLC2A9 were set to Hypouricaemia, renal, 2, MIM# 612076