Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Pneumothorax v0.11 FBN1 Sangavi Sivagnanasundram reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301510, 12598898, 22772371, 34795948; Phenotypes: Marfan syndrome MONDO:0007947; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pneumothorax v0.0 FBN1 Bryony Thompson gene: FBN1 was added
gene: FBN1 was added to Pneumothorax. Sources: Eligibility statement prior genetic testing,Expert list,Expert Review Green,NHS GMS
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN1 were set to 12598898; 1864149; 11786720; 2595640; 15161620; 25765122
Phenotypes for gene: FBN1 were set to Marfan syndrome, OMIM:154700