Thoracic aortic aneurysm or 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

8 reviews

James Eden (Manchester)

I don't know

Gene not currently tested on Manchester cardiac gene panel. 191 variants listed on HGMD (accessed 24/09/2019).
Created: 24 Sep 2019, 2:03 p.m. | Last Modified: 24 Sep 2019, 2:03 p.m.
Panel Version: 1.93

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

Phenotypes
Ehlers-Danlos syndrome, classic type, 1 130000

Publications

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

I don't know

Associated with EDS, which overlaps with TAAD.
Present on Wessex aortopathy panel, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without having features of EDS).
Created: 8 May 2019, 1:32 p.m.

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

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
  • South West GLH
  • London South GLH
  • Expert Review Green
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Ehlers-Danlos syndrome vascular type
  • Ehlers-Danlos syndrome, classic type, 130000
OMIM
120215
Clinvar variants
Variants in COL5A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL5A1 were set to 26188975; 10946364

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to COL5A1.

20 Feb 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to COL5A1. Rating Changed from Green List (high evidence) to Green List (high evidence)

29 Jun 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for COL5A1 were set to 26188975; 10946364

26 Jun 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for COL5A1 were set to Ehlers-Danlos syndrome vascular type; Ehlers-Danlos syndrome, classic type, 130000

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Feb 2016, Gel status: 1

Set Mode of Inheritance

Caroline Wright (Genomics England Curator)

Mode of inheritance for COL5A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL5A1 were set to Ehlers-Danlos syndrome vascular type; Ehlers-Danlos syndrome, classic type

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL5A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL5A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list