Activity
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9 actions
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| Common Variable Immunodeficiency v0.96 | PTEN | Zornitza Stark Publications for gene: PTEN were set to 27531073; 27426521; 32588888 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.95 | PTEN | Zornitza Stark Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350 to Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350; Skewed immune repertoire composition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.95 | PTEN | Zornitza Stark Publications for gene: PTEN were set to 27531073; 27426521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.94 | PTEN | Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: Skewed immune repertoire composition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.68 | PTEN | Bryony Thompson Marked gene: PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.68 | PTEN | Bryony Thompson Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.68 | PTEN | Bryony Thompson Classified gene: PTEN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.68 | PTEN | Bryony Thompson Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common Variable Immunodeficiency v0.67 | PTEN |
Bryony Thompson gene: PTEN was added gene: PTEN was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 27531073; 27426521 Phenotypes for gene: PTEN were set to Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350 Review for gene: PTEN was set to GREEN Added comment: At least 4 unrelated probands with PTEN loss of function variants have been reported with hypogammaglobulinemia, fulfilling the common variable immunodeficiency (CVID) disorders diagnostic criteria. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120). Sources: Expert list |
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