| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Marked gene: PLCG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Gene: plcg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Classified gene: PLCG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.84 | PLCG2 | Bryony Thompson Gene: plcg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.83 | PLCG2 |
Bryony Thompson gene: PLCG2 was added gene: PLCG2 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG2 were set to 31853824; 32671674; 22236196 Phenotypes for gene: PLCG2 were set to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Mode of pathogenicity for gene: PLCG2 was set to Other Review for gene: PLCG2 was set to GREEN Added comment: 7 cases from 5 unrelated families reported with a clinical diagnosis of CVID or hypogammaglobulinemia and heterozygous gain-of-function nonsynonymous variants. Sources: Literature |
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