Thoracic aortic aneurysm or dissection
Gene: FBN1
Well characterised aortopathy gene; present on Wessex aortopathy and TAAD panels.Created: 8 May 2019, 12:31 p.m.
Variants in this GENE are reported as part of current diagnostic practice
154700 Marfan syndrome; well characterised geneCreated: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene currently tested on Manchester cardiac gene panel. 2721 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with TAAD (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acromicric dysplasia (102370); Ectopia lentis, familial (129600); Geleophysic dysplasia 2 (614185); Marfan lipodystrophy syndrome (616914); Marfan syndrome (154700); MASS syndrome (604308); Stiff skin syndrome (184900); Weill-Marchesani syndrome 2, dominant, (608328)
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
On the Inherited Cardiac Condition Genes panel reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 24.Created: 19 Feb 2016, 10:48 a.m.
Publications
Mutations in exons 24-32 are associated with a more severe phenotype, often manifesting in the neonatal period.
Mutations in exons 41 and 42 also cause Acromicric dysplasia and Geleophysic dysplasia.Created: 20 Jan 2016, 4:48 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Marfan syndrome; tall; Arachnodactyly; scoliosis; Aortic root dilatation; Aortic dissection; Pectus excavatum; hypermobile joints; pes planus; ectopia lentis
Source South West GLH was added to FBN1. Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to FBN1.
Source North West GLH was added to FBN1. Added phenotypes Ectopia lentis, familial (129600); Marfan syndrome (154700); Marfan lipodystrophy syndrome (616914); Weill-Marchesani syndrome 2, dominant, (608328); Acromicric dysplasia (102370); Stiff skin syndrome (184900); MASS syndrome (604308); Geleophysic dysplasia 2 (614185) for gene: FBN1 Publications for gene FBN1 were changed from to 20082464 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
FBN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FBN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FBN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FBN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene FBN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
FBN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list
FBN1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN,Expert list