| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Combined Immunodeficiency v0.183 | TGFBR1 | Bryony Thompson Marked gene: TGFBR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.183 | TGFBR1 | Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.183 | TGFBR1 | Bryony Thompson Classified gene: TGFBR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.183 | TGFBR1 | Bryony Thompson Added comment: Comment on list classification: IUIS CID gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.183 | TGFBR1 | Bryony Thompson Gene: tgfbr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.182 | TGFBR1 |
Bryony Thompson gene: TGFBR1 was added gene: TGFBR1 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR1 were set to 24333532; 23884466; 32048120 Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 MIM#609192 Mode of pathogenicity for gene: TGFBR1 was set to Other Review for gene: TGFBR1 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 TGFBR1 pathogenic missense variants. Sources: Expert list |
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