Ehlers Danlos syndromes

Gene: FBN2

Green List (high evidence)

FBN2 (fibrillin 2)
EnsemblGeneIds (GRCh38): ENSG00000138829
EnsemblGeneIds (GRCh37): ENSG00000138829
OMIM: 612570, Gene2Phenotype
FBN2 is in 10 panels

5 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: FBN2; 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 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.

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

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

Upload gene information

Louise Daugherty (Genomics England Curator)

FBN2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen

26 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for FBN2 were set to Contractural arachnodactyly, congenital, 121050

26 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Apr 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FBN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Apr 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for FBN2 were set to 9737771;10797416;20799338

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FBN2 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FBN2 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory,Expert list