Likely inborn error of metabolism

Gene: SLC12A3

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

• 22009145

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