Intestinal failure or congenital diarrhoea
Gene: SPINT2This 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: 19185281 - found 10 families with congenital sodium diarrhea and recessive loss-of-function mutations
PMID: 24142340 - found 12 families with Congenital tufting enteropathy and SPINT2 mutationsCreated: 25 Jan 2019, 5:21 p.m.
Phenotypes
congenital sodium diarrhea; Congenital tufting enteropathy
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: SPINT2; 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: SPINT2 were changed from congenital sodium diarrhea; Congenital tufting enteropathy to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Mode of inheritance for gene: SPINT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: SPINT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINT2 were changed from to congenital sodium diarrhea; Congenital tufting enteropathy
Publications for gene: SPINT2 were set to
Source Expert Review Green was added to SPINT2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SPINT2 was added gene: SPINT2 was added to Intestinal failure. Sources: NHS GMS Mode of inheritance for gene: SPINT2 was set to