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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bartter syndrome, type 1
OMIM
600839
Clinvar variants
Variants in SLC12A1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bartter syndrome, type 1 for gene: SLC12A1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC12A1. Added phenotypes Bartter syndrome, type 1 for gene: SLC12A1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC12A1. Added phenotypes Bartter syndrome, type 1 for gene: SLC12A1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SLC12A1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bartter syndrome, type 1 for gene: SLC12A1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC12A1 was added gene: SLC12A1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal