Intestinal failure or congenital diarrhoea
Gene: SLC26A3This 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
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 givenCreated: 8 Jan 2019, 10:52 a.m.
Phenotypes for gene: SLC26A3 were changed from Congenital chloride diarrhea to Diarrhea 1, secretory chloride, congenital, OMIM:214700
Phenotypes for gene: SLC26A3 were changed from to Congenital chloride diarrhea
Mode of inheritance for gene: SLC26A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A3 were set to
Source Expert Review Green was added to SLC26A3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC26A3 was added gene: SLC26A3 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: SLC26A3 was set to