Thoracic aortic aneurysm or 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 13 panels

6 reviews

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

Green List (high evidence)

Well characterised aortopathy gene; present on Wessex aortopathy and TAAD panels.
Created: 8 May 2019, 12:31 p.m.

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
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Aortic aneurysm, familial thoracic 6, 611788
  • Thoracic Aortic Aneurysms and Aortic Dissections
  • Moyamoya disease 5 (614042)
  • Thoracic aortic aneurysm and dissection
  • Moyamoya disease 5, 614042
  • Isolated familial thoracic aortic aneurysms and dissection
  • Multisystemic smooth muscle dysfunction syndrome (613834)
  • Aortic aneurysm, familial thoracic 6 (611788)
  • Multisystemic smooth muscle dysfunction syndrome, 613834
OMIM
102620
Clinvar variants
Variants in ACTA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to ACTA2.

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to ACTA2.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to ACTA2. Added phenotypes Moyamoya disease 5 (614042); Multisystemic smooth muscle dysfunction syndrome (613834); Aortic aneurysm, familial thoracic 6 (611788) for gene: ACTA2 Publications for gene ACTA2 were changed from to 17994018 Rating Changed from Green List (high evidence) to Green List (high evidence)

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Matina Prapa (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2016, Gel status: 4

Set Mode of Inheritance

Matina Prapa (Genomics England Curator)

Mode of inheritance for ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Eligibility statement prior genetic testing

3 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

3 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

3 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

3 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

3 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN