| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common Variable Immunodeficiency v0.132 | BLK | Zornitza Stark Marked gene: BLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.132 | BLK | Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.132 | BLK | Zornitza Stark Classified gene: BLK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.132 | BLK | Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.86 | BLK |
Bryony Thompson gene: BLK was added gene: BLK was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BLK were set to 25926555 Phenotypes for gene: BLK were set to common variable immunodeficiency Review for gene: BLK was set to AMBER Added comment: A single family with 2 affected cases with a heterozygous missense (L3P), with supporting in vitro and patient cell assays. Sources: Literature |
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