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Renal tubulopathies

Gene: SLC12A1

Green List (high evidence)
SLC12A1 (solute carrier family 12 member 1)
EnsemblGeneIds (GRCh38): ENSG00000074803
EnsemblGeneIds (GRCh37): ENSG00000074803
OMIM: 600839, Gene2Phenotype
SLC12A1 is in 4 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Heterozygous digenic SLC12A1 and CLCNKB variants have been associated with a variant of Bartter syndrome (PMID: 32506365), however, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Created: 10 Aug 2023, 2:26 p.m. | Last Modified: 10 Aug 2023, 2:26 p.m.
Panel Version: 4.13
Created: 10 Aug 2023, 2:26 p.m.
Last Modified: 10 Aug 2023, 2:26 p.m.
Panel version: 4.13

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: SLC12A1; 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
Bartter syndrome, type 1, MIM 601678

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2019, 11:32 a.m.

Panel version: 1.16

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and in Eligibility statement prior genetic testing
Created: 10 May 2016, 11:07 a.m.
Created: 10 May 2016, 11:07 a.m.

Panel version: 0.21

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

NOT RTA
Created: 28 Oct 2015, 9:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Oct 2015, 9:51 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Bartter syndrome, type 1, OMIM:601678
  • Bartter disease type 1, MONDO:0100344
Tags
monogenic-polygenic
OMIM
600839
Clinvar variants
Variants in SLC12A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Aug 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC12A1 were set to 8640224; 30999883; 32506365; 26770037; 27103762; 8640224; 9355073; 28095294; 32506365

10 Aug 2023, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag monogenic-polygenic tag was added to gene: SLC12A1.

10 Aug 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC12A1 were changed from Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Bartter syndrome, type 1, 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344

10 Aug 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC12A1 were set to 8640224; 30999883; 32506365; 26770037; 27103762

11 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC12A1 were set to 8640224; 32506365

11 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC12A1 were set to 8640224

17 Jun 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC12A1 were changed from Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis. to Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis; Bartter syndrome, type 1, 601678

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SLC12A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4

Set Phenotypes

Damian Smedley (Genomics England Curator)

Phenotypes for SLC12A1 were set to Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis.

10 May 2016, Gel status: 4

Set publications

Damian Smedley (Genomics England Curator)

Publications for SLC12A1 were set to 8640224

10 May 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SLC12A1 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).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC12A1 was added to Renal tubular acidosispanel. Sources: Eligibility statement prior genetic testing