| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Inflammatory bowel disease v0.37 | SLC9A3 | Zornitza Stark Marked gene: SLC9A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.37 | SLC9A3 | Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.37 | SLC9A3 | Zornitza Stark Classified gene: SLC9A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.37 | SLC9A3 | Zornitza Stark Gene: slc9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.36 | SLC9A3 |
Zornitza Stark gene: SLC9A3 was added gene: SLC9A3 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC9A3 were set to 26358773; 33346580 Phenotypes for gene: SLC9A3 were set to Diarrhoea 8, secretory sodium, congenital 616868; Very Early Onset Inflammatory Bowel Disease Review for gene: SLC9A3 was set to AMBER Added comment: Described as a monogenic cause of VEOIBD. 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 Review |
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