Thoracic aortic aneurysm or dissection
Gene: COL5A2
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
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 TAADCreated: 8 May 2019, 1:34 p.m.
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.
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 26188975; 29543232
Publications for gene: COL5A2 were set to 26188975
Source South West GLH was added to COL5A2.
Source London South GLH was added to COL5A2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for COL5A2 were set to multisystemic smooth muscle dysfunction syndrome; Ehlers-Danlos syndrome, classic type, 130000
Publications for COL5A2 were set to 26188975
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COL5A2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for COL5A2 were set to multisystemic smooth muscle dysfunction syndrome; Ehlers-Danlos syndrome, classic type
COL5A2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list
COL5A2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list