GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 14 panels
1 review
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, 11:52 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- None
- Panels with this gene
-
- Pneumothorax - familial
- Thoracic aortic aneurysm or dissection (GMS)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Lipodystrophy - childhood onset
- Thoracic aortic aneurysm or dissection
- Fetal anomalies
- DDG2P
- Structural eye disease
- Skeletal dysplasia
- Cerebral vascular malformations
- Ehlers Danlos syndrome with a likely monogenic cause
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FBN1 was added gene: FBN1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Geleophysic dysplasia 2 614185; Stiff skin syndrome 184900; Marfan syndrome 154700; Acromicric dysplasia 102370; Weill-Marchesani syndrome 2, dominant 608328