Thoracic aortic aneurysm and dissection

Gene: MAT2A

Red List (low evidence)

MAT2A (methionine adenosyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000168906
EnsemblGeneIds (GRCh37): ENSG00000168906
OMIM: 601468, Gene2Phenotype
MAT2A is in 3 panels

4 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

James Eden (Manchester)

I don't know

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

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

Red List (low evidence)

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

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.

Details

Sources
  • Expert Review Red
  • London South GLH
  • London South GLH
OMIM
601468
Clinvar variants
Variants in MAT2A
Penetrance
None
Panels with this gene

History Filter Activity

18 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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