Likely inborn error of metabolism - targeted testing not possible
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
Heterozygous digenic SLC12A3 and CLCNKB variants have been associated with a variant of Gitelman syndrome (PMID: 26770037;30999883). However, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.Created: 10 Aug 2023, 3:13 p.m. | Last Modified: 10 Aug 2023, 3:13 p.m.
Panel Version: 4.44
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
Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3.
Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Tag monogenic-polygenic was removed from gene: SLC12A3. Tag monogenic - polygenic tag was added to gene: SLC12A3.
Publications for gene: SLC12A3 were set to 27604308
Tag monogenic-polygenic tag was added to gene: SLC12A3.
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