Groopman et al 2019 - Genes with diagnostic variants

Gene: SLC26A1

Red List (low evidence)

SLC26A1 (solute carrier family 26 member 1)
EnsemblGeneIds (GRCh38): ENSG00000145217
EnsemblGeneIds (GRCh37): ENSG00000145217
OMIM: 610130, Gene2Phenotype
SLC26A1 is in 2 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC26A1; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Nephrolithiasis calcium oxalate; OMIM phenotype MIN no.: 167030; Number of cases: 1 (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 Red
  • Expert review red
  • Literature
Phenotypes
  • MIM 167030
  • Nephropathy of unknown origin
  • Nephrolithiasis calcium oxalate
OMIM
610130
Clinvar variants
Variants in SLC26A1
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to SLC26A1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SLC26A1 was added gene: SLC26A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC26A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A1 were set to MIM 167030; Nephropathy of unknown origin; Nephrolithiasis calcium oxalate