Groopman et al 2019 - Genes with diagnostic variants

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 7 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC12A3; Inheritance: AR; Clinical diagnosis: Glomerulopathy; Tubulointerstitial disease; Genetic diagnosis: Gitelman syndrome; OMIM phenotype MIM no.:263800; Number of cases: 3 (all compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert review green
  • Literature
Phenotypes
  • Tubulointerstitial disease
  • MIM 263800
  • Glomerulopathy
  • Gitelman syndrome
OMIM
600968
Clinvar variants
Variants in SLC12A3
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to SLC12A3. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC12A3 was added gene: SLC12A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A3 were set to Tubulointerstitial disease; MIM 263800; Glomerulopathy; Gitelman syndrome