Thoracic aortic aneurysm or dissection (GMS)

Gene: ELN

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.

Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.

Panel Version: 0.55

I don't know

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

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

Panel Version: 0.35

I don't know

Gene not currently tested on Manchester TAAD panel. Amber list (i.e. non-core) seems most appropriate for this gene.

Created: 25 Sep 2019, 9:21 a.m. | Last Modified: 25 Sep 2019, 9:21 a.m.

Panel Version: 0.30

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

Phenotypes
Cutis laxa, autosomal dominant 123700; Supravalvar aortic stenosis 185500

Publications

• 27866049
• 23250899
• 27080061
• 16085695

I don't know

On CGGL Royal Brompton panel currently. Definitively associated with cutis laxa and SVAS, and some evidence that also associated with aortic aneurysm (PMID: 16085695), although association is rare. Moderate, but not hot high level of evidence for inclusion, on FTAAD panel.

Created: 18 Sep 2019, 2:42 p.m. | Last Modified: 18 Sep 2019, 2:42 p.m.

Panel Version: 0.30

Phenotypes
OMIM: 123700 Cutis Laxa; 185500 supravalvar aortic stenosis

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

Green List (high evidence)

123700 Cutis Laxa; 185500 supravalvar aortic stenosis; 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

Note that the link for the Canadian TAAD gene panel mentioned in Caroline's review is now at: http://sgm.med.usherbrooke.ca/index.php/en/services-en/cardiogenetics/taad

Created: 3 Jul 2017, 8:40 a.m.

PMID:16085695 (2006) report 2 cases: a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype ranging from mild dilatation to severe aneurysm or aortic rupture.

Created: 29 Jun 2017, 11:50 a.m.

Comment when marking as ready: On Canadian non-profit TAAD gene panel: http://sherbrookegenomicmedicine.ca/index.php/en/services-en/cardiogenetics-en/taad-en

Created: 19 Feb 2016, 2:58 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 for Aortic valve disease 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 = 8.

Created: 19 Feb 2016, 10:56 a.m.

Green List (high evidence)

See ref above- Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

Created: 12 Feb 2016, 3:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#123700- Cutis laxa, AD; #185500- Supravalvar aortic stenosis

Publications

• PMID: 16085695