| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Predominantly Antibody Deficiency v1.1 | BLK | Bryony Thompson Marked gene: BLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v1.1 | BLK | Bryony Thompson Gene: blk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Predominantly Antibody Deficiency v1.1 | BLK |
Bryony Thompson gene: BLK was added gene: BLK was added to Predominantly Antibody Deficiency. 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, MONDO:0015517 Review for gene: BLK was set to RED Added comment: Two individuals in a single family heterozygous for a missense variant p.L3P (46 hets in gnomAD v4) reported with CVID. There have been no other reports in the last 10 years. In vitro functional assays of the variant. Sources: Literature |
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