Intestinal failure or congenital diarrhoea
Gene: SLC9A3This 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
PMID: 26358773 - Recessive loss-of-function mutations found in 8/16 families with non-syndromic CSD (where GUCY2C mutations were excluded)Created: 25 Jan 2019, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital sodium diarrhea
Publications
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: SLC9A3; 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: SLC9A3 were changed from Congenital sodium diarrhea to Diarrhea 8, secretory sodium, congenital, OMM:616868
Mode of inheritance for gene: SLC9A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were changed from to Congenital sodium diarrhea
Publications for gene: SLC9A3 were set to
Source Expert Review Green was added to SLC9A3. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC9A3 was added gene: SLC9A3 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: SLC9A3 was set to