Ehlers Danlos syndromesGene: FBN2
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: FBN2; 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 this gene on the EDS panel. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.
Created: 28 Apr 2017, 11:49 a.m.
Comment on phenotypes: There is clinical overlap between EDS and other Heritable Connective Tissue Disorders like Congenital contractural arachnodactyly, which is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears and specifically shares overlapping features with Marfan syndrome.
Created: 26 Apr 2017, 1:36 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases
Created: 26 Apr 2017, 12:42 p.m.
Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050
Source NHS GMS was added to FBN2. 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.
FBN2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for FBN2 were set to Contractural arachnodactyly, congenital, 121050
This gene has been classified as Green List (High Evidence).
Mode of inheritance for FBN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for FBN2 were set to 9737771;10797416;20799338
FBN2 was created by ellenmcdonagh
FBN2 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list