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  2. Rhabdomyolysis and metabolic muscle disorders
  3. SLC2A9
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Rhabdomyolysis and metabolic muscle disorders

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or G2P. At least 11 variants reported.
Created: 4 Jan 2017, 1:36 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, 1:36 p.m.
Created: 4 Jan 2017, 1:36 p.m.

Panel version: 0.110

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypouricemia, renal, 2 612076
  • {Uric acid concentration, serum, QTL 2} 612076
OMIM
606142
Clinvar variants
Variants in SLC2A9
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC2A9 were set to Hypouricemia, renal, 2 612076; {Uric acid concentration, serum, QTL 2} 612076

4 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SLC2A9 were set to Hypouricemia, renal, 2 612076; {Uric acid concentration, serum, QTL 2} 612076

4 Jan 2017, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SLC2A9 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Jan 2017, Gel status: 0

Added New Source

Ros Quinlivan (UCLH)

SLC2A9 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Expert Review

4 Jan 2017, Gel status: 0

Created

Ros Quinlivan (UCLH)

SLC2A9 was created by Ros Quinlivan