Thoracic aortic aneurysm or dissection

Gene: ELN

Green List (high evidence)

ELN (elastin)
EnsemblGeneIds (GRCh38): ENSG00000049540
EnsemblGeneIds (GRCh37): ENSG00000049540
OMIM: 130160, Gene2Phenotype
ELN is in 13 panels

5 reviews

Rebecca Whittington (South West GLH)

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

Rebecca Foulger (Genomics England curator)

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.

Caroline Wright (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Matina Prapa (Genomics England Curator)

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

Details

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ELN.

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to ELN. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Jun 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ELN were set to Cutis laxa, autosomal dominant, 123700; Supravalvar aortic stenosis, 185500

26 Jun 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for ELN were set to 16085695

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 4

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for ELN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ELN was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list