Thoracic aortic aneurysm or dissection

Gene: COL3A1

MOI was corrected.

Created: 30 Sep 2019, 10:49 a.m. | Last Modified: 30 Sep 2019, 10:49 a.m.

Panel Version: 1.96

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: 8 May 2019, 12:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

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

• 25758994

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

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, type IV, 130050

Green List (high evidence)

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