Thoracic aortic aneurysm and dissection

Gene: ACTA2

Green List (high evidence)

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 14 panels

8 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

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

Green List (high evidence)

On CGGL Royal Brompton panel, pathogenic variants detected with good segregation evidence. Well characterised FTAAD gene.
Created: 18 Sep 2019, 2:03 p.m. | Last Modified: 18 Sep 2019, 2:03 p.m.
Panel Version: 0.30

Phenotypes
Aortic aneurysm, familial thoracic 6

Variants in this GENE are reported as part of current diagnostic practice

Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

Green List (high evidence)

Well characterised aortopathy gene (OMIM #611788); present on Wessex aortopathy and TAAD panels.
Created: 29 Aug 2019, 2:29 p.m. | Last Modified: 29 Aug 2019, 2:29 p.m.
Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 6

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Whittington (South West GLH)

Green List (high evidence)

611788 FTAAD, nonsyndromic, age of onset 3-79. Well characterised FTAAD gene.
Created: 25 Mar 2019, 4:30 p.m.
Recent review: Milewicz et al 2017 Arterioscl Thromb Vasc Biol 37:26 PMID:27879251
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

James Eden (Manchester)

Green List (high evidence)

Gene currently tested on Manchester cardiac gene panel. 83 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic aneurysm, familial thoracic 6 (611788); Moyamoya disease 5 (614042); Multisystemic smooth muscle dysfunction syndrome (613834)

Publications

Variants in this GENE are reported as part of current diagnostic practice

David Parry (University of Edinburgh)

Green List (high evidence)

Nick Camm (NHS)

Green List (high evidence)

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.
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 = 32.
Created: 19 Feb 2016, 10:47 a.m.

Publications

  • 17994018
  • doi:10.​1007/​s12265-016-9673-5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • South West GLH
  • London South GLH
  • Expert Review Green
  • South West GLH
  • London South GLH
  • North West GLH
Phenotypes
  • Aortic aneurysm, familial thoracic 6, 611788
  • Aortic aneurysm, familial thoracic 6 (611788)
  • Thoracic aortic aneurysm and dissection
  • Multisystemic smooth muscle dysfunction syndrome, 613834
  • Moyamoya disease 5 (614042)
  • Thoracic Aortic Aneurysms and Aortic Dissections
  • Multisystemic smooth muscle dysfunction syndrome (613834)
  • Moyamoya disease 5, 614042
  • Isolated familial thoracic aortic aneurysms and dissection
OMIM
102620
Clinvar variants
Variants in ACTA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ACTA2 were set to

18 Apr 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ACTA2 was added gene: ACTA2 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: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, 611788; Aortic aneurysm, familial thoracic 6 (611788); Thoracic aortic aneurysm and dissection; Multisystemic smooth muscle dysfunction syndrome, 613834; Moyamoya disease 5 (614042); Thoracic Aortic Aneurysms and Aortic Dissections; Multisystemic smooth muscle dysfunction syndrome (613834); Moyamoya disease 5, 614042; Isolated familial thoracic aortic aneurysms and dissection