Ductal plate malformation

Gene: SLC12A3

Red List (low evidence)

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

1 review

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, 3:13 p.m. | Last Modified: 10 Aug 2023, 3:13 p.m.
Panel Version: 1.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Gitelman syndrome, OMIM: 263800
  • Gitelman syndrome, MONDO:0009904
Tags
monogenic-polygenic
OMIM
600968
Clinvar variants
Variants in SLC12A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Oct 2023, Gel status: 1

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.

10 Aug 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (263800) to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904

10 Aug 2023, Gel status: 1

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.

10 Aug 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC12A3 were set to

10 Aug 2023, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag monogenic-polygenic tag was added to gene: SLC12A3.

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Red gene on the Rare ciliopath

12 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SLC12A3 was added gene: SLC12A3 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (263800)