| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Inflammatory bowel disease v0.122 | IL21 | Bryony Thompson Classified gene: IL21 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.122 | IL21 | Bryony Thompson Added comment: Comment on list classification: Only a single case reported | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.122 | IL21 | Bryony Thompson Gene: il21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.97 | IL21 | Zornitza Stark Marked gene: IL21 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.97 | IL21 | Zornitza Stark Gene: il21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.97 | IL21 | Zornitza Stark Phenotypes for gene: IL21 were changed from immunodeficiency; inflammatory bowel disease to Immunodeficiency, common variable, 11, MIM# 615767 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.96 | IL21 | Zornitza Stark Classified gene: IL21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.96 | IL21 | Zornitza Stark Gene: il21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.95 | IL21 | Zornitza Stark reviewed gene: IL21: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 11, MIM# 615767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.93 | IL21 |
Aimee Huynh gene: IL21 was added gene: IL21 was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL21 were set to 24746753 Phenotypes for gene: IL21 were set to immunodeficiency; inflammatory bowel disease Penetrance for gene: IL21 were set to unknown Review for gene: IL21 was set to AMBER gene: IL21 was marked as current diagnostic Added comment: IL-21 deficiency - a novel monogenetic cause of severe, early-onset IBD associated with a CVID-like primary immunodeficiency. One case of a turkish boy born to consanguinous parents, diagnosed with IBD in early years (diarrhea from 2 months of age, worsened over time, biopsy typical of Crohn's). This proband had 2 siblings who had early onset IBD before age 1 year and died. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||