Pneumothorax - familial
Gene: FBN1
On Royal Brompton CGGL panel (FTAAD and pneumothorax). Pneumothorax common feature of Marfan, potentially the presenting feature.Created: 7 Nov 2019, 8:53 a.m. | Last Modified: 7 Nov 2019, 8:53 a.m.
Panel Version: 2.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: added publication suggested by expert reviewerCreated: 7 Nov 2019, 3:47 p.m. | Last Modified: 7 Nov 2019, 3:47 p.m.
Panel Version: 2.15
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: FBN1; Suggested initial gene rating: Green; Evidence for inclusion: Marfan syndrome; pneumothorax common feature.; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Comment on list classification: Strong link with Marfan Syndrome, with 5 - 11% of patients with the disease experiencing pneumothoraces (PMID: 25765122). Have conducted literature review with little success, however having discussed this with the clinical team, we have agreed that this should be included in the 'Green List' for this disorder.Created: 18 Jan 2017, 1:41 p.m.
Mutated in Marfan syndrome - a rare cause of pneumothorax that should be identified during prescreening (if phenotype suggests)Created: 8 Sep 2016, 3:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Marfan syndrome
Publications
Phenotypes for gene: FBN1 were changed from Marfan syndrome, 154700 to Marfan syndrome, OMIM:154700
Phenotypes for gene: FBN1 were changed from Marfan syndrome to Marfan syndrome, 154700
Publications for gene: FBN1 were set to 12598898; 15161620; 11786720; 1864149; 2595640
Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence)
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
FBN1 was added to Familial Pneumothoraxpanel. Sources: Eligibility statement prior genetic testing
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
FBN1 was created by [email protected]
FBN1 was added to Familial Pneumothoraxpanel. Sources: Expert list