Thoracic aortic aneurysm or dissection (GMS)

Gene: TGFB3

Green List (high evidence)

Gene is not currently tested on Manchester TAAD panel, although literature suggests it should be included in future TAAD panels.

Created: 25 Sep 2019, 9:05 a.m. | Last Modified: 25 Sep 2019, 9:05 a.m.

Panel Version: 0.30

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

• 25835445

Green List (high evidence)

On CGGL Royal Brompton FTAAD panel. Well characterised, and strong association with FTAAD in LDS type 5

Created: 18 Sep 2019, 2:57 p.m. | Last Modified: 18 Sep 2019, 2:57 p.m.

Panel Version: 0.30

Phenotypes
OMIM: 615582 Loeys-Dietz syndrome 5

Publications

• 25835445

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

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.

Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.

Panel Version: 0.35

Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.

Created: 12 Sep 2019, 1:57 p.m. | Last Modified: 12 Sep 2019, 1:57 p.m.

Panel Version: 0.29

Green List (high evidence)

Associated with a LDS phenotype (LDS5, OMIM #615582); several entries on HGMDPro.

Created: 29 Aug 2019, 1:59 p.m. | Last Modified: 29 Aug 2019, 1:59 p.m.

Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LOEYS-DIETZ SYNDROME

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