Ehlers Danlos syndrome with a likely monogenic cause
Gene: FBN2

FBN2 (fibrillin 2)
EnsemblGeneIds (GRCh38): ENSG00000138829
EnsemblGeneIds (GRCh37): ENSG00000138829
OMIM: 612570, Gene2Phenotype
FBN2 is in 8 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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: FBN2; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:28 p.m.

Panel version: 0.401

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 28 Apr 2017, 11:49 a.m.

Panel version: 0.224

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
Radboud University Medical Center, Nijmegen
Expert Review Green
Emory Genetics Laboratory
Expert list

Phenotypes

Contractural arachnodactyly, congenital, OMIM:121050

OMIM

612570

Clinvar variants

Variants in FBN2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly, congenital, 121050 to Contractural arachnodactyly, congenital, OMIM:121050

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to FBN2. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4