Renal tubulopathies
Gene: SLC12A3EnsemblGeneIds (GRCh38): ENSG00000070915
EnsemblGeneIds (GRCh37): ENSG00000070915
OMIM: 600968, Gene2Phenotype
SLC12A3 is in 5 panels
4 reviews
Sarah Leigh (Genomics England Curator)
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, 3:14 p.m. | Last Modified: 10 Aug 2023, 3:14 p.m.
Panel Version: 4.13
Eleanor Williams (Genomics England Curator)
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
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and on eligibility statementCreated: 10 May 2016, 11:08 a.m.
Fiona Karet (Universit y of Cambridge)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Gitelman syndrome, OMIM: 263800
- Gitelman syndrome, MONDO:0009904
- Tags
- OMIM
- 600968
- Clinvar variants
- Variants in SLC12A3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800 to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Removed Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag monogenic-polygenic was removed from gene: SLC12A3. Tag monogenic - polygenic tag was added to gene: SLC12A3.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC12A3 were set to
Added Tag
Sarah Leigh (Genomics England Curator)Tag monogenic-polygenic tag was added to gene: SLC12A3.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SLC12A3 were changed from Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria to Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria; Gitelman syndrome, 263800
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to SLC12A3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for SLC12A3 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SLC12A3 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing