Ehlers Danlos syndromes

Gene: FBN1

Green List (high evidence)

FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 16 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

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.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

I don't know

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.

Ellen Thomas (Genomics England Curator)

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.

History Filter Activity

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FBN1. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

26 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FBN1 were set to Marfan syndrome,154700

24 Jan 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FBN1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FBN1 was created by ellenmcdonagh