| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Common Variable Immunodeficiency v1.3 | IRF2BP2 | Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798; 32048120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.2 | IRF2BP2 | Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.2 | IRF2BP2 | Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v1.1 | IRF2BP2 | Peter McNaughton reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36193988, PMID: 33864888; Phenotypes: common variable immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.50 | IRF2BP2 | Bryony Thompson Marked gene: IRF2BP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.50 | IRF2BP2 | Bryony Thompson Gene: irf2bp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.50 | IRF2BP2 | Bryony Thompson Classified gene: IRF2BP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.50 | IRF2BP2 | Bryony Thompson Gene: irf2bp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.49 | IRF2BP2 |
Bryony Thompson gene: IRF2BP2 was added gene: IRF2BP2 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BP2 were set to 27016798; 32048120 Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14 MIM#617765 Review for gene: IRF2BP2 was set to AMBER Added comment: A single family with 3 affected members with a heterozygous missense variant and supporting in vitro assays and assays of patient cells. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120). Sources: Expert list |
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