Ehlers Danlos syndrome with a likely monogenic cause
Gene: FBN1
FBN1 (fibrillin 1)
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
6 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
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: greenCreated: 3 Apr 2019, 3:41 p.m.
Angela Brady (Nhs)
Neeti Ghali (NWTRGS, Northwick Park Hospital)
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Marfan syndrome, OMIM:154700
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Lipodystrophy - childhood onset
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Cerebral vascular malformations
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
- Intellectual disability
History Filter Activity
18 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
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