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Inborn errors of metabolism

Gene: SLC12A3

Green List (high evidence)

SLC12A3 (solute carrier family 12 member 3)
EnsemblGeneIds (GRCh38): ENSG00000070915
EnsemblGeneIds (GRCh37): ENSG00000070915
OMIM: 600968, Gene2Phenotype
SLC12A3 is in 6 panels

2 reviews

Catherine Snow (Genomics England)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.

Promoted from Amber to Green. SLC12A3 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.
Created: 31 Oct 2019, 1:10 p.m. | Last Modified: 31 Oct 2019, 1:10 p.m.
Panel Version: 1.387

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gitelman syndrome, 263800

Publications

Sarah Leigh (Genomics England Curator)

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal tubular acidosis

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Gitelman syndrome (Disorder of magnesium metabolism)
  • Renal tubular acidosis
OMIM
600968
Clinvar variants
Variants in SLC12A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc12a3 has been classified as Green List (High Evidence).

31 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: slc12a3 has been classified as Green List (High Evidence).

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC12A3. Source London North GLH was added to SLC12A3.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: SLC12A3 was added gene: SLC12A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A3 were set to 27604308 Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis