| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common Variable Immunodeficiency v0.66 | RAC2 | Bryony Thompson Marked gene: RAC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.66 | RAC2 | Bryony Thompson Gene: rac2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.66 | RAC2 | Bryony Thompson Classified gene: RAC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.66 | RAC2 | Bryony Thompson Gene: rac2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.65 | RAC2 |
Bryony Thompson gene: RAC2 was added gene: RAC2 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAC2 were set to 25512081; 32048120; 14564011 Phenotypes for gene: RAC2 were set to Common variable immunodeficiency Review for gene: RAC2 was set to AMBER Added comment: Two siblings homozygous for a loss of function variant and a phenotype resembling CVID (not in OMIM), with supporting immunological assays of patient cells. Null mouse model demonstrates the gene has a critical role in B cell development and signalling. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120). Sources: Expert list |
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