Intestinal failure or congenital diarrhoea
Gene: SLC26A3

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

3 reviews

Eleanor Williams (Genomics England Curator)

This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Miranda Durkie (Genetics)

Green List (high evidence)

>20 cases reported in the literature
Created: 25 Jan 2019, 5:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital chloride diarrhea

Publications

Created: 25 Jan 2019, 5:07 p.m.

Panel version: 0.16

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: SLC26A3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 10:52 a.m.

Created: 8 Jan 2019, 10:52 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Diarrhea 1, secretory chloride, congenital, OMIM:214700

OMIM

126650

Clinvar variants

Variants in SLC26A3

Penetrance

None

Publications

Panels with this gene