Thoracic aortic aneurysm or dissection

Gene: FBN1

Green List (high evidence)

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

Green List (high evidence)

154700 Marfan syndrome; well characterised gene

Created: 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

Green List (high evidence)

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

• 20082464

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Green List (high evidence)

I don't know

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

• 7762551
• doi:10.​1007/​s12265-016-9673-5

Green List (high evidence)

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