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  3. SLC22A12
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Acute rhabdomyolysis

Gene: SLC22A12

Red List (low evidence)
SLC22A12 (solute carrier family 22 member 12)
EnsemblGeneIds (GRCh38): ENSG00000197891
EnsemblGeneIds (GRCh37): ENSG00000197891
OMIM: 607096, Gene2Phenotype
SLC22A12 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
SLC22A12 is rated Red on the GMS 'Rhabdomyolysis and metabolic muscle disorders panel' (version 1.75) panel. Can cause exercise-induced acute renal failure in about 10% of patients 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypouricemia, renal, OMIM:220150

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Exercise induced acute kidney failure
  • Hypouricemia, renal, OMIM:220150
OMIM
607096
Clinvar variants
Variants in SLC22A12
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: SLC22A12 was added gene: SLC22A12 was added to Acute rhabdomyolysis. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC22A12 were set to Exercise induced acute kidney failure; Hypouricemia, renal, OMIM:220150