Renal Tubulopathies and related 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: 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

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: 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