Cerebral vascular malformations
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
1 review
Alice Gardham (Genomics England)
Mixed literature. Probably very low risk of intracerebral aneurysm in MarfanCreated: 15 Dec 2016, 9:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome 154700
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
- Phenotypes
-
- Marfan syndrome 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
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Cerebral vascular malformations
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to FBN1.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FBN1.
19 Dec 2016, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
15 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
15 Dec 2016, Gel status: 1
Added New Source
Alice Gardham (Genomics England)FBN1 was added to Cerebrovascular disorderspanel. Sources: UKGTN
15 Dec 2016, Gel status: 0
Created
Alice Gardham (Genomics England)FBN1 was created by agardham