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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.536 | SLC9A3 | Arina Puzriakova reviewed gene: SLC9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.535 | SLC9A3 |
Arina Puzriakova 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 |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 | SLC9A3 | Ivone Leong Classified gene: SLC9A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 | SLC9A3 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.400 | SLC9A3 | Ivone Leong Gene: slc9a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.399 | SLC9A3 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.396 | SLC9A3 | Ivone Leong Publications for gene: SLC9A3 were set to PMID: 26358773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.392 | SLC9A3 |
Kelsey Jones 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 Added comment: 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 Review |
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