Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SLC9A3
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and should remain amber. Only 2 out of 9 cases have IBD. Kelsey Jones from GOSH has given this an Amber rating. This gene is already green on the Intestinal failure panel (R331).Created: 8 Mar 2022, 3:09 p.m. | Last Modified: 8 Mar 2022, 3:09 p.m.
Panel Version: 2.536
Comment on list classification: New gene added by Kelsey Jones (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and not Gene2Phenotype. Based on the expert review and available evidence this gene has been given an Amber rating.Created: 1 Feb 2021, 1:49 p.m. | Last Modified: 1 Feb 2021, 1:49 p.m.
Panel Version: 2.400
Described as a monogenic cause of VEOIBD (recognised criteria for the R15 panel). 2 patients from unrelated families in a series of 9 cases with SLC9A3-related congenital sodium diarrhoea developed intestinal inflammation/IBD (PMID: 26358773). GWAS have indicated a strong association between SLC9A3 and IBD, and there are supportive mouse models (reviewed in PMID: 26358773).Included on a monogenic IBD gene panel proposed by The Paediatric IBD Porto Group of ESPGHAN (PMID: 33346580).
Sources: Expert ReviewCreated: 29 Jan 2021, 5:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea
Publications
Added phenotypes Diarrhea 8, secretory sodium, congenital, OMIM:616868 for gene: SLC9A3 Publications for gene: SLC9A3 were updated from 26358773; 33346580 to 26358773; 31276831; 30633106; 33346580
Gene: slc9a3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC9A3 were changed from Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea to Very Early Onset Inflammatory Bowel Disease; Diarrhea 8, secretory sodium, congenital, OMIM:616868
Publications for gene: SLC9A3 were set to PMID: 26358773
gene: SLC9A3 was added gene: SLC9A3 was added to Primary immunodeficiency. Sources: Expert Review Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC9A3 were set to PMID: 26358773 Phenotypes for gene: SLC9A3 were set to Very Early Onset Inflammatory Bowel Disease; Congenital sodium diarrhoea Penetrance for gene: SLC9A3 were set to Incomplete Review for gene: SLC9A3 was set to AMBER