Renal tubulopathies

Gene: SLC12A3

Green List (high evidence)

SLC12A3 (solute carrier family 12 member 3)
EnsemblGeneIds (GRCh38): ENSG00000070915
EnsemblGeneIds (GRCh37): ENSG00000070915
OMIM: 600968, Gene2Phenotype
SLC12A3 is in 8 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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 provided
Created: 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 statement
Created: 10 May 2016, 11:08 a.m.

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

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
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
  • Gitelman syndrome, 263800
OMIM
600968
Clinvar variants
Variants in SLC12A3
Penetrance
Complete
Panels with this gene

History Filter Activity

17 Jun 2019, Gel status: 4

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

3 Feb 2019, Gel status: 3

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)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SLC12A3 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A3 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing