Thoracic aortic aneurysm or dissection
Gene: ELN
123700 Cutis Laxa; 185500 supravalvar aortic stenosis; 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 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/taadCreated: 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-enCreated: 19 Feb 2016, 2:58 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.
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.
See ref above- Aortic aneurysmal disease and cutis laxa caused by defects in the elastin geneCreated: 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
Source South West GLH was added to ELN.
Source London South GLH was added to ELN. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ELN were set to Cutis laxa, autosomal dominant, 123700; Supravalvar aortic stenosis, 185500
Publications for ELN were set to 16085695
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
ELN was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list