Thoracic aortic aneurysm or dissection
Gene: ACTA2
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
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:27879251Created: 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
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
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
Source South West GLH was added to ACTA2.
Source London South GLH was added to ACTA2.
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)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ACTA2 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene ACTA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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