Nucleotide metabolism disorders

Gene: SLC2A9

Green List (high evidence)

SLC2A9 (solute carrier family 2 member 9)
EnsemblGeneIds (GRCh38): ENSG00000109667
EnsemblGeneIds (GRCh37): ENSG00000109667
OMIM: 606142, Gene2Phenotype
SLC2A9 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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