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| Inflammatory bowel disease v0.99 | IL2RB | Zornitza Stark Marked gene: IL2RB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.99 | IL2RB | Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.99 | IL2RB | Zornitza Stark Phenotypes for gene: IL2RB were changed from immunodeficiency; autoimmune enteropathy to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.98 | IL2RB | Zornitza Stark Classified gene: IL2RB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.98 | IL2RB | Zornitza Stark Gene: il2rb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.97 | IL2RB | Zornitza Stark reviewed gene: IL2RB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.93 | IL2RB |
Aimee Huynh gene: IL2RB was added gene: IL2RB was added to Inflammatory bowel disease. Sources: Expert Review Mode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RB were set to 31040184, 31040185 Phenotypes for gene: IL2RB were set to immunodeficiency; autoimmune enteropathy Penetrance for gene: IL2RB were set to unknown Review for gene: IL2RB was set to AMBER gene: IL2RB was marked as current diagnostic Added comment: 3 homozygous mutations in the IL2RB gene of 8 individuals from 4 consanguineous families that cause disease by distinct mechanisms. Nearly all patients presented with autoantibodies, hypergammaglobulinemia, bowel inflammation, dermatological abnormalities, lymphadenopathy, and CMV disease. 4/5 children had severe diarrhea and infectious/autoimmune enteropathy. Endoscopy of patient B1 showed villous atrophy, and gastrointestinal biopsies revealed chronic inflammatory infiltration of the duodenum and rectum. Sources: Expert Review |
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