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Mendeliome

Gene: SLC26A3

Green List (high evidence)

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, 9:46 a.m. | Last Modified: 5 Jan 2021, 9:46 a.m.
Panel Version: 0.5947

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

History Filter Activity

5 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc26a3 has been classified as Green List (High Evidence).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC26A3 were changed from to Diarrhoea 1, secretory chloride, congenital, MIM# 214700

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC26A3 were set to

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC26A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC26A3 was added gene: SLC26A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC26A3 was set to Unknown