Thoracic aortic aneurysm and dissectionGene: SMAD6
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.
Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.55
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore this gene has been promoted from Red to Amber.
Created: 18 Nov 2019, 4:33 p.m. | Last Modified: 18 Nov 2019, 4:33 p.m.
Panel Version: 0.35
Literature associates SMAD6 with aortic valve disease and aneurysm.
Created: 2 Oct 2019, 3:17 p.m. | Last Modified: 2 Oct 2019, 3:17 p.m.
Panel Version: 0.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Aortic valve disease 2 614823
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.
Phenotypes for gene: SMAD6 were changed from to Aortic valve disease 2 614823
Publications for gene: SMAD6 were set to
Mode of inheritance for gene: SMAD6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to SMAD6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source NHS GMS was added to SMAD6. Source Expert Review Amber was added to SMAD6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: SMAD6 was added gene: SMAD6 was added to GMS FTAAD placeholder panel. Sources: London South GLH,Expert Review Red Mode of inheritance for gene: SMAD6 was set to