Skeletal dysplasia
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Acromelic dysplasias gp of SD, Overgrowth (tall stature) syndromes with skeletal involvement. Several MFS, GPHYSD2 & ACMICD cases reported with variants in this gene, but only one case with Weill-Marchesani. GPHYSD2 and ACMICD are allelic with variants in exons 41-42. Gene also associated with 129600, 616914, 604308, 184900.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185; Marfan syndrome 154700; Stiff skin syndrome 184900; Weill-Marchesani syndrome 2, dominant 608328
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FBN1; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:48 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185; Marfan syndrome 154700; Stiff skin syndrome 184900; Weill-Marchesani syndrome 2, dominant 608328
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Geleophysic dysplasia 2 614185
- Stiff skin syndrome 184900
- Marfan syndrome 154700
- Acromicric dysplasia 102370
- Weill-Marchesani syndrome 2, dominant 608328
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Lipodystrophy - childhood onset
- Fetal anomalies
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Geleophysic dysplasia 2 614185; Stiff skin syndrome 184900; Marfan syndrome 154700; Acromicric dysplasia 102370; Weill-Marchesani syndrome 2, dominant 608328 for gene: FBN1
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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FBN1 were set to Acromicric dysplasia 102370; Geleophysic dysplasia 2 614185; Marfan syndrome 154700; Stiff skin syndrome 184900; Weill-Marchesani syndrome 2, dominant 608328
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)FBN1 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)FBN1 was created by sleigh