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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.34 | NOD2 | Arina Puzriakova Phenotypes for gene: NOD2 were changed from {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321 to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; {Yao syndrome}, OMIM:617321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | NOD2 |
Zornitza Stark gene: NOD2 was added gene: NOD2 was added to Infantile enterocolitis & monogenic inflammatory bowel disease. Sources: Expert list Mode of inheritance for gene: NOD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NOD2 were set to 11385576; 17804789; 32463623 Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321 Review for gene: NOD2 was set to GREEN gene: NOD2 was marked as current diagnostic Added comment: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. 7% of a cohort of 401 patients with Crohn's had NOD2 bi-allelic variants. Sources: Expert list |
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