ACTA2

actin, alpha 2, smooth muscle, aorta
OMIM: 102620, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green ACTA2 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Green ACTA2 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Moyamoya disease 5, OMIM:614042
Green ACTA2 in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
Red ACTA2 in Pneumothorax - familial

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
Red ACTA2 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Red
    Phenotypes
    • Multi system smooth muscle dysfunction
    Green ACTA2 in Thoracic aortic aneurysm or dissection (GMS)


    Version 3.16
    Latest signed off version: v3.0 (22 Mar 2023)

    review 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
    Green ACTA2 in Thoracic aortic aneurysm or dissection

    Level 3: Connective tissue disorders and aortopathies
    Level 2: Cardiovascular disorders
    Version 1.127

    review 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
    Red ACTA2 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.177

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Multi system smooth muscle dysfunction
    Red ACTA2 in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • Multi system smooth muscle dysfunction
    Amber ACTA2 in Ehlers Danlos syndrome with a likely monogenic cause

    Level 3: Connective tissues disorders
    Level 2: Rheumatological disorders
    Version 3.15
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Aortic aneurysm, familial thoracic 6, OMIM:611788
    Green ACTA2 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • AORTIC ANEURYSM, FAMILIAL THORACIC 6
    • MOYAMOYA DISEASE 5
    Green ACTA2 in DDG2P


    Version 4.5
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788
    • MOYAMOYA DISEASE 5 614042
    Amber ACTA2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Aortic aneurysm, familial thoracic 6, 611788
    • Multisystemic
    • smooth muscle dysfunction syndrome, 613834
    • Moyamoya disease 5, 614042
    Green ACTA2 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multisystemic smooth muscle dysfunction syndrome, 613834
    • Moyamoya disease 5, 614042
    • Aortic aneurysm, familial thoracic 6, 611788
    Green ACTA2 in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multisystemic smooth muscle dysfunction syndrome, OMIM:613834