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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.16 | BIRC3 |
Boaz Palterer gene: BIRC3 was added gene: BIRC3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: BIRC3 were set to Inflammatory bowel disease; IBD; Crohn's disease Penetrance for gene: BIRC3 were set to unknown Review for gene: BIRC3 was set to GREEN Added comment: Qi Li et al. described 14 patients from 10 unrelated families with monoallelic and biallelic variants in BIRC3 presenting with CD. Biallelic variants present more severe and earlier. Extensive funtional validation including zebrafish and mice models, recapitulating phenotype https://www.gastrojournal.org/article/S0016-5085(26)06946-5/fulltext Sources: Literature |
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