Thoracic aortic aneurysm or dissection
Gene: COL3A1MOI was corrected.Created: 30 Sep 2019, 10:49 a.m. | Last Modified: 30 Sep 2019, 10:49 a.m.
Panel Version: 1.96
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
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
Publications for gene: COL3A1 were set to 25758994
Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source South West GLH was added to COL3A1. Mode of inheritance for gene COL3A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to COL3A1.
Source North West GLH was added to COL3A1. Added phenotypes Ehlers-Danlos syndrome, vascular type (130050) for gene: COL3A1 Publications for gene COL3A1 were changed from to 25758994 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for COL3A1 were set to Loeys-Dietz syndrome; Ehlers-Danlos syndrome, type IV, 130050
Mode of inheritance for COL3A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene COL3A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL3A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,UKGTN,Expert list
Model of inheritance for gene COL3A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COL3A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,UKGTN,Expert list
COL3A1 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,UKGTN,Expert list