Thoracic aortic aneurysm or dissection

Gene: TGFB3

Green List (high evidence)

Associated with a LDS phenotype; several entries on HGMDPro.

Created: 8 May 2019, 2:27 p.m.

Green List (high evidence)

615582 Loeys-Dietz syndrom; 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

Red List (low evidence)

Note that the link to the Sherlock gene panel from Caroline's review is now at: http://sgm.med.usherbrooke.ca/index.php/en/services-en/cardiogenetics/taad

Created: 3 Jul 2017, 8:32 a.m.

Comment when marking as ready: On http://sherbrookegenomicmedicine.ca/index.php/en/services-en/cardiogenetics-en/taad-en

Created: 19 Feb 2016, 3:05 p.m.

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.

Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm 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.

Created: 19 Feb 2016, 11 a.m.

Green List (high evidence)

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections (PMID: 25835445)

Created: 14 Feb 2016, 3:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
107970- Arrhythmogenic right ventricular dysplasia 1; 615582- Loeys-Dietz syndrome 5

Publications

• PMID: 25835445