Thoracic aortic aneurysm or dissection

Gene: COL5A2

I don't know

Gene not currently tested on Manchester cardiac gene panel. 43 variants listed on HGMD (accessed 24/09/2019).

Created: 24 Sep 2019, 2:07 p.m. | Last Modified: 24 Sep 2019, 2:07 p.m.

Panel Version: 1.93

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

Phenotypes
Ehlers-Danlos syndrome, classic type, 2 130010

Publications

• 29543232

I don't know

On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with EDS, which overlaps with TAAD

Created: 8 May 2019, 1:34 p.m.

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

Green List (high evidence)

130010 Classic Ehlers-Danlos 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)

COL5A2 is on this panel for syndromic TAAD: patients with syndromic thoracic aortic aneurysm suffer from conditions including Ehlers-Danlos syndrome (EDS). PMID:26188975 perform WES in 102 patients using a 21-gene panel including COL1A1, COL1A2, COL5A1 and COL5A2. 1 patient had suspicious variants of unknown significance in COL5A2.

Created: 29 Jun 2017, 11:38 a.m.

Comment when marking as ready: Definite disease gene for Ehlers-Danlos syndrome, overlapping phenotype with TAAD

Created: 19 Feb 2016, 2:54 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, 10:55 a.m.

Green List (high evidence)

Low incidence of COL5A2 mutations in TAAD patients (PMID: 26188975)

Created: 12 Feb 2016, 11:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
#130000- Ehlers-Danlos syndrome, classic type

Publications

• PMID: 26188975