Research panel - Severe Paediatric Disorders
Gene: SLC12A1

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

2 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: 1.170

Created: 10 Aug 2023, 2:26 p.m.
Last Modified: 10 Aug 2023, 2:26 p.m.
Panel version: 1.170

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC12A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Bartter syndrome, type 1, 601678 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Bartter syndrome, type 1, OMIM:601678
Bartter disease type 1, MONDO:0100344

Tags

monogenic-polygenic

OMIM

600839

Clinvar variants

Variants in SLC12A1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

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 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 30847515

20 Feb 2020, Gel status: 3