Thoracic aortic aneurysm or dissection (GMS)
Gene: MAT2A
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Guo 2015 article associates rare genetic variants in MAT2A with aortic disease.Created: 25 Sep 2019, 9:48 a.m. | Last Modified: 25 Sep 2019, 9:48 a.m.
Panel Version: 0.30
Publications
Only single report via exome study of VUS segregating with aortic aneurysm in a single family. Not enough evidence.Created: 18 Sep 2019, 8:20 p.m. | Last Modified: 18 Sep 2019, 8:20 p.m.
Panel Version: 0.30
Publications
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.
gene: MAT2A was added gene: MAT2A was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: MAT2A was set to