| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Combined Immunodeficiency v0.186 | TGFBR2 | Bryony Thompson Classified gene: TGFBR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.186 | TGFBR2 | Bryony Thompson Added comment: Comment on list classification: IUIS CID gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.186 | TGFBR2 | Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.185 | TGFBR2 | Bryony Thompson Marked gene: TGFBR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.185 | TGFBR2 | Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.185 | TGFBR2 | Bryony Thompson Classified gene: TGFBR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.185 | TGFBR2 | Bryony Thompson Gene: tgfbr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.184 | TGFBR2 |
Bryony Thompson gene: TGFBR2 was added gene: TGFBR2 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR2 were set to 24333532; 23884466; 32048120 Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 MIM#610168 Mode of pathogenicity for gene: TGFBR2 was set to Other Review for gene: TGFBR2 was set to GREEN Added comment: There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR2 pathogenic missense variants. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||