Inborn errors of metabolism
Gene: SLC12A3
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
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
Gene: slc12a3 has been classified as Green List (High Evidence).
Gene: slc12a3 has been classified as Green List (High Evidence).
Source NHS GMS was added to SLC12A3. Source London North GLH was added to SLC12A3.
Sarah Leigh: Associated with relevant pheno
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