Thoracic aortic aneurysm or dissection (GMS)

Gene: TGFBR2

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

Green List (high evidence)

On CGGL Royal Brompton FTAAD panel. Pathogenic variants reported. Well characterised gene.

Created: 18 Sep 2019, 2:59 p.m. | Last Modified: 18 Sep 2019, 2:59 p.m.

Panel Version: 0.30

Phenotypes
OMIM: 610168 Loeys-Dietz syndrome type 2

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

Green List (high evidence)

Well characterised aortopathy gene (Loeys-Dietz syndrome type 2 OMIM #610168); present on Wessex aortopathy and TAAD panels.

Created: 29 Aug 2019, 2:25 p.m. | Last Modified: 29 Aug 2019, 2:25 p.m.

Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Loeys-Dietz syndrome

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

Green List (high evidence)

610168 Loeys-Dietz 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. 148 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
Loeys Dietz syndrome, type 2 (610168)

Publications

• 16928994

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

Green List (high evidence)

Green List (high evidence)

Comment when marking as ready: In eligibility criteria

Created: 19 Feb 2016, 2:08 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.

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 = 11.

Created: 19 Feb 2016, 10:51 a.m.

Publications

• doi:10.​1007/​s12265-016-9673-5
• 16027248