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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

Andrew Coventry (Victorian Clinical Genetics Services)

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.
Can present prenatally with progressive polyhydramnios and distended bowel loops on fetal ultrasound.
Created: 7 Feb 2025, 12:18 p.m. | Last Modified: 7 Feb 2025, 12:18 p.m.

Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 1, secretory chloride, congenital MIM#214700

Publications

Created: 7 Feb 2025, 12:18 p.m.
Last Modified: 7 Feb 2025, 12:18 p.m.
Panel version: 1.1566

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Diarrhea 1, secretory chloride, congenital, 214700 (3)

OMIM

126650

Clinvar variants

Variants in SLC26A3

Penetrance

None

Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Diarrhea 1, secretory chloride, congenital, 214700 (3) for gene: SLC26A3

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A3 was added gene: SLC26A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)

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