Renal tubulopathies
Gene: SLC12A3Heterozygous 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, 3:14 p.m. | Last Modified: 10 Aug 2023, 3:14 p.m.
Panel Version: 4.13
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: SLC12A3; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gitelman syndrome, MIM 263800
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Expert review and on eligibility statementCreated: 10 May 2016, 11:08 a.m.
Single coding sequence allele only sometimes found, even in symptomatic individuals.Created: 1 Nov 2015, 7 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gitelman syndrome (hypokalemic alkalosis with usually with hypomagnesemia and hypocalciuria
Variants in this GENE are reported as part of current diagnostic practice
Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3.
Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800 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
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria to Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800
Source NHS GMS was added to SLC12A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC12A3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC12A3 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing