Spontaneous coronary artery dissection
Gene: FBN1EnsemblGeneIds (GRCh38): ENSG00000166147
EnsemblGeneIds (GRCh37): ENSG00000166147
OMIM: 134797, Gene2Phenotype
FBN1 is in 24 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Dominant-negative and LoF (haploinsufficiency) have been reported as disease mechanisms (OMIM). PTV are associated with more severe MFS and with aortic events. Missense are associated with a milder MFS and less often result in aortic events (PMID: 29357934 ).
definitive by clingen curation
at least 3x individuals with Marfan + FBN1 variant have been reported with SCAD
PMID: 34842564, 35092149
Sources: LiteratureCreated: 27 Jun 2024, 11:29 p.m. | Last Modified: 7 Aug 2024, 12:56 a.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome MIM#154700; familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Marfan syndrome MIM#154700
- familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related
- OMIM
- 134797
- Clinvar variants
- Variants in FBN1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Glaucoma congenital
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Hand and foot malformations
- Craniosynostosis
- Incidentalome
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Congenital Heart Defect
- Lipodystrophy_Lipoatrophy
- Eye Anterior Segment Abnormalities
- Congenital diaphragmatic hernia
- Cataract
- Aortopathy_Connective Tissue Disorders
- Interstitial Lung Disease
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: fbn1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: fbn1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)gene: FBN1 was added gene: FBN1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBN1 were set to 29357934 Phenotypes for gene: FBN1 were set to Marfan syndrome MIM#154700; familial thoracic aortic aneurysm and aortic dissection MONDO:0019625, FBN1-related Review for gene: FBN1 was set to GREEN gene: FBN1 was marked as current diagnostic