Rhabdomyolysis and metabolic muscle disorders
Gene: SLC22A12

SLC22A12 (solute carrier family 22 member 12)
EnsemblGeneIds (GRCh38): ENSG00000197891
EnsemblGeneIds (GRCh37): ENSG00000197891
OMIM: 607096, Gene2Phenotype
SLC22A12 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with this phenotype in OMIM or G2P. At least 6 variants reported.
Created: 4 Jan 2017, 1:29 p.m.

Comment on phenotypes: Phenotype not relevant to this panel, but can mimic acute rhabdomyolysis according to expert reviewer Ros Quinlivan
Created: 4 Jan 2017, 1:28 p.m.

Created: 4 Jan 2017, 1:28 p.m.

Panel version: 0.105

Ros Quinlivan (UCLH)

Red List (low evidence)

can mimic acute rhabdomyolysis
Created: 4 Jan 2017, 11:20 a.m.

Created: 4 Jan 2017, 11:20 a.m.

Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Hypouricemia, renal 220150

OMIM

607096

Clinvar variants

Variants in SLC22A12

Penetrance

Complete

Panels with this gene