Thoracic aortic aneurysm or dissection (GMS)
Gene: COL5A2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome, classic type, 2 130010
Publications
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel. Therefore this gene has been promoted from Amber to GreenCreated: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Comment on list classification: Promoted from red to amber based on expert reviews.Created: 12 Sep 2019, 1:34 p.m. | Last Modified: 12 Sep 2019, 1:34 p.m.
Panel Version: 0.25
On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with Classic EDS (OMIM #120190), which overlaps with TAADCreated: 29 Aug 2019, 2:09 p.m. | Last Modified: 29 Aug 2019, 2:09 p.m.
Panel Version: 0.5
Phenotypes
Classic Ehlers-Danlos syndrome type 2
Variants in this GENE are reported as part of current diagnostic practice
130010 Classic Ehlers-Danlos syndrome; 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
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 TAADCreated: 19 Feb 2016, 2:54 p.m.
Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).Created: 30 Aug 2019, 10:09 a.m. | Last Modified: 30 Aug 2019, 10:09 a.m.
Panel Version: 0.8
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.
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
Publications for gene: COL5A2 were set to
Source Expert Review Green was added to COL5A2. Source NHS GMS was added to COL5A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: col5a2 has been classified as Amber List (Moderate Evidence).
Gene: col5a2 has been classified as Red List (Low Evidence).
Gene: col5a2 has been classified as Red List (Low Evidence).
gene: COL5A2 was added gene: COL5A2 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A2 were set to Ehlers-Danlos syndrome, classic type, 130000; multisystemic smooth muscle dysfunction syndrome