Thoracic aortic aneurysm and dissection

Gene: COL5A2

Green List (high evidence)

COL5A2 (collagen type V alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000204262
EnsemblGeneIds (GRCh37): ENSG00000204262
OMIM: 120190, Gene2Phenotype
COL5A2 is in 9 panels

9 reviews

James Eden (Manchester)

Green List (high evidence)

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

Phenotypes
Ehlers-Danlos syndrome, classic type, 2 130010

Publications

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 Green
Created: 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

Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Green List (high evidence)

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 TAAD
Created: 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

Rebecca Whittington (South West GLH)

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

Nick Camm (NHS)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

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.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Definite disease gene for Ehlers-Danlos syndrome, overlapping phenotype with TAAD
Created: 19 Feb 2016, 2:54 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

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.

Matina Prapa (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • South West GLH
  • London South GLH
  • South West GLH
  • London South GLH
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 130000
  • multisystemic smooth muscle dysfunction syndrome
OMIM
120190
Clinvar variants
Variants in COL5A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL5A2 were set to

18 Nov 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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)

12 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: col5a2 has been classified as Amber List (Moderate Evidence).

30 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: col5a2 has been classified as Red List (Low Evidence).

30 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: col5a2 has been classified as Red List (Low Evidence).

18 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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