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Inflammatory bowel disease v1.0 IL21 Gene migrated from ENSG00000138684 to ENSG00000138684 (gene set migration)
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