Thoracic aortic aneurysm and dissection

Gene: COL3A1

Green List (high evidence)

COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 11 panels

8 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI changed from Monoallelic to Both monoallelic and biallelic based on expert reviews provided.
Created: 21 Nov 2019, 11:22 a.m. | Last Modified: 21 Nov 2019, 11:22 a.m.
Panel Version: 0.54
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Pathogenic variants reported. Well characterised FTAAD gene
Created: 18 Sep 2019, 2:13 p.m. | Last Modified: 18 Sep 2019, 2:13 p.m.
Panel Version: 0.30

Phenotypes
Ehlers-Danlos syndrome, vascular type

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

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

Green List (high evidence)

Currently on the Wessex aortopathy panel.
Have detected pathogenic and likely pathogenic variants in patients referred with a combination of: aortopathy; hypermobility; family history of young onset strokes.
Created: 29 Aug 2019, 2:32 p.m. | Last Modified: 29 Aug 2019, 2:32 p.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome

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

Rebecca Whittington (South West GLH)

Green List (high evidence)

130050 Vascular 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

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 645 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with TAAD (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, vascular type (130050)

Publications

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

David Parry (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, type IV, 130050

Nick Camm (NHS)

Green List (high evidence)

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.
On the Inherited Cardiac Condition Genes panel 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, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 11.
Created: 19 Feb 2016, 10:47 a.m.
Comment on mode of inheritance: G2P and OMIM state monoallelic (dominant negative), and expert reviewer has stated both.
Created: 29 Jan 2016, 4:07 p.m.
Comment on list classification: More than one reviewer agreeing this gene should be promoted to green. It is a confirmed DD gene for Ehlers Danlos syndrome type 3 and 4.
Created: 29 Jan 2016, 4:05 p.m.

Publications

  • 2243125
  • doi:10.​1007/​s12265-016-9673-5

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Ehlers-Danlos syndrome, type IV, 130050
  • Loeys-Dietz syndrome
  • Ehlers-Danlos syndrome, vascular type (130050)
OMIM
120180
Clinvar variants
Variants in COL3A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Nov 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

9 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL3A1 were set to

18 Apr 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: COL3A1 was added gene: COL3A1 was added to GMS FTAAD placeholder panel. Sources: Expert Review Green,London South GLH,South West GLH,North West GLH Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV, 130050; Loeys-Dietz syndrome; Ehlers-Danlos syndrome, vascular type (130050)