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  3. SLC2A9
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Acute rhabdomyolysis

Gene: SLC2A9

Red List (low evidence)
SLC2A9 (solute carrier family 2 member 9)
EnsemblGeneIds (GRCh38): ENSG00000109667
EnsemblGeneIds (GRCh37): ENSG00000109667
OMIM: 606142, Gene2Phenotype
SLC2A9 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

After NHS Genomic Medicine Service consideration, the rating of this gene has been left as Red but may be subject to review in the future.
Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
SLCA9 is rated Red on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.75) panel. Can cause exercise-induced acute renal failure which mimics rhabdomyolysis.
Created: 19 Jan 2022, 5:51 p.m. | Last Modified: 19 Jan 2022, 5:51 p.m.
Panel Version: 0.3

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypouricemia, renal, 2, OMIM:612076

Created: 19 Jan 2022, 5:51 p.m.
Last Modified: 19 Jan 2022, 5:51 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Hypouricemia, renal, 2, OMIM:612076
  • Exercise induced kidney injury
OMIM
606142
Clinvar variants
Variants in SLC2A9
Penetrance
None
Panels with this gene

History Filter Activity

19 Jan 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: SLC2A9 was added gene: SLC2A9 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC2A9 were set to Hypouricemia, renal, 2, OMIM:612076; Exercise induced kidney injury