Thoracic aortic aneurysm and dissection

Gene: COL5A1

Green List (high evidence)

COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 12 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, 1 130000

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, 1:35 p.m. | Last Modified: 12 Sep 2019, 1:35 p.m.
Panel Version: 0.26

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

Green List (high evidence)

Associated with Classic EDS (OMIM #130000), which overlaps with TAAD.
Present on Wessex aortopathy panel, pathogenic variants have been detected in patients with an EDS phenotype, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without having features of EDS).
Created: 29 Aug 2019, 2:12 p.m. | Last Modified: 29 Aug 2019, 2:12 p.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Classic Ehlers-Danlos syndrome type 1

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

Rebecca Whittington (South West GLH)

Green List (high evidence)

130000 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)

COL5A1 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 TAAD patients using a 21-gene panel including COL1A1, COL1A2, COL5A1 and COL5A2. 1 patient had suspicious variants of unknown significance in COL5A1. 1 patient had known deleterious variant in COL5A1.
Created: 29 Jun 2017, 11:36 a.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Definite disease gene for Ehlers-Danlos syndrome, overlap with TAAD
Created: 19 Feb 2016, 2:53 p.m.
Comment on mode of inheritance: Ehlers-Danlos syndrome, classic type - AD
Created: 19 Feb 2016, 2:50 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: 0.7
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)

Low frequency of COL5A1 mutations in TAAD (PMID: 26188975)
Created: 12 Feb 2016, 11:32 a.m.

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
  • Ehlers-Danlos syndrome vascular type
OMIM
120215
Clinvar variants
Variants in COL5A1
Penetrance
None
Panels with this gene

History Filter Activity

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 COL5A1. Source NHS GMS was added to COL5A1. 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: col5a1 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: col5a1 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: col5a1 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: COL5A1 was added gene: COL5A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Amber,London South GLH,South West GLH Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 130000; Ehlers-Danlos syndrome vascular type