Intestinal failure or congenital diarrhoeaGene: SPINT2
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
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 mutations
Created: 25 Jan 2019, 5:21 p.m.
congenital sodium diarrhea; Congenital tufting enteropathy
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 given
Created: 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