Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Pneumothorax - familial v3.6 FBN1 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: FBN1.
Pneumothorax - familial v3.6 FBN1 Ida Ertmanska commented on gene: FBN1: Comment on mode of inheritance: There are numerous individuals with Marfan syndrome reported with both heterozygous and biallelic FBN1 variants - though biallelic cases are known to present with more severe features, and with higher disease penetrance. As stated by previous reviewers, pneumothorax is a common feature of Marfan Syndrome. Hence, the MOI on Pneumothorax - familial should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Pneumothorax - familial v3.6 FBN1 Ida Ertmanska reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278365, 27582083, 31950671; Phenotypes: Marfan syndrome, OMIM:154700, Marfan syndrome, MONDO:0007947; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pneumothorax - familial v2.23 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
Pneumothorax - familial v2.16 FBN1 Louise Daugherty Phenotypes for gene: FBN1 were changed from Marfan syndrome to Marfan syndrome, 154700
Pneumothorax - familial v2.15 FBN1 Louise Daugherty Added comment: Comment on publications: added publication suggested by expert reviewer
Pneumothorax - familial v2.15 FBN1 Louise Daugherty Publications for gene: FBN1 were set to 12598898; 15161620; 11786720; 1864149; 2595640
Pneumothorax - familial v2.0 FBN1 Matthew Edwards reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2595640, 12598898, 25765122; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Pneumothorax - familial v1.9 FBN1 Louise Daugherty reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pneumothorax - familial v1.8 FBN1 Louise Daugherty Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pneumothorax - familial FBN1 Olivia Niblock marked FBN1 as ready
Pneumothorax - familial FBN1 Olivia Niblock classified FBN1 as green
Pneumothorax - familial FBN1 Olivia Niblock commented on FBN1
Pneumothorax - familial FBN1 Stefan Marciniak edited their review of FBN1
Pneumothorax - familial FBN1 Stefan Marciniak reviewed FBN1