Nucleotide metabolism disorders
Gene: SLC2A9
SLC2A9 (solute carrier family 2 member 9)
EnsemblGeneIds (GRCh38): ENSG00000109667
EnsemblGeneIds (GRCh37): ENSG00000109667
OMIM: 606142, Gene2Phenotype
SLC2A9 is in 3 panels
EnsemblGeneIds (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: 1 Apr 2022, 10:57 p.m. | Last Modified: 1 Apr 2022, 10:57 p.m.
Panel Version: 0.12454
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- hereditary renal hypouricemia MONDO:0009071
- Disorders of purine metabolism
- OMIM
- 606142
- Clinvar variants
- Variants in SLC2A9
- 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: SLC2A9 was added gene: SLC2A9 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SLC2A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC2A9 were set to 19926891; 19026395; 25966807; 21256783; 21810765 Phenotypes for gene: SLC2A9 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism