Thoracic aortic aneurysm or dissection (GMS)
Gene: COL3A1
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
On CGGL Royal Brompton panel. Pathogenic variants reported. Well characterised FTAAD geneCreated: 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
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
130050 Vascular Ehlers-Danlos syndrome; well characterised geneCreated: 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
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
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, type IV, 130050
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
Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to
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)