Congenital Diarrhoea
Gene: SLC26A3

SLC26A3 (solute carrier family 26 member 3)
EnsemblGeneIds (GRCh38): ENSG00000091138
EnsemblGeneIds (GRCh37): ENSG00000091138
OMIM: 126650, Gene2Phenotype
SLC26A3 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital secretory chloride diarrhoea is an autosomal recessive form of severe chronic diarrhoea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalaemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome, except that chloride diarrhea is not associated with calcium level abnormalities. More than 5 unrelated families reported.
Created: 5 Jan 2021, 9:45 a.m. | Last Modified: 5 Jan 2021, 9:45 a.m.

Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhoea 1, secretory chloride, congenital, MIM# 214700

Publications

Created: 5 Jan 2021, 9:45 a.m.
Last Modified: 5 Jan 2021, 9:45 a.m.
Panel version: 0.78

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Diarrhoea 1, secretory chloride, congenital, MIM# 214700

OMIM

126650

Clinvar variants

Variants in SLC26A3

Penetrance

None

Publications

Panels with this gene