Ehlers Danlos syndromesGene: FBN1
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FBN1; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.
Refer to clinical team for further discussion on wether we should include FBN1on the EDS panel. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.
Created: 7 Apr 2017, 3:25 p.m.
Comment on list classification: Marfan syndrome is an important differential we should not miss in this group.
Created: 11 May 2016, 12:50 p.m.
Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for FBN1 were set to Marfan syndrome,154700
FBN1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green
FBN1 was created by ellenmcdonagh