Thoracic aortic aneurysm or dissection
Gene: TGFB3
Associated with a LDS phenotype; several entries on HGMDPro.Created: 8 May 2019, 2:27 p.m.
615582 Loeys-Dietz syndrom; 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
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/taadCreated: 3 Jul 2017, 8:32 a.m.
Comment when marking as ready: On http://sherbrookegenomicmedicine.ca/index.php/en/services-en/cardiogenetics-en/taad-enCreated: 19 Feb 2016, 3:05 p.m.
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.
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
Source South West GLH was added to TGFB3.
Source London South GLH was added to TGFB3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for TGFB3 were set to Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970
Publications for TGFB3 were set to 25835445
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
TGFB3 was added to Familial Thoracic Aortic Aneurysm Diseasepanel. Sources: Literature