1. Genes and Genomic Entities
  2. ACTA1

ACTA1

actin, alpha 1, skeletal muscle
OMIM: 102610, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green ACTA1 in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
    Red ACTA1 in Hypertrophic cardiomyopathy


    Level 2: Cardiology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    • Dilated cardiomyopathy
    Red ACTA1 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.97

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Literature
    Phenotypes
    • Dilated cardiomyopathy
    • Hypertrophic cardiomyopathy
    Amber ACTA1 in Congenital muscular dystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • CMD with rigid spine
    • Nemaline myopathy 3, autosomal dominant or recessive 161800
    • Myopathy, congenital, with fiber-type disproportion 1 255310
    Green ACTA1 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review
    • Expert
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Myopathy, actin, congenital, with cores, OMIM:161800
    • Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
    • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
    • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
    • CMD with rigid spine
    Green ACTA1 in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Myopathy, actin, congenital, with cores, OMIM:161800
    • Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
    • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
    • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
    Red ACTA1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Myopathy, scapulohumeroperoneal, 616852
    Green ACTA1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
    Green ACTA1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NEMALINE MYOPATHY 3, 161800
    Green ACTA1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Dilated cardiomyopathy, MONDO:0005021
    • Hypertrophic cardiomyopathy, MONDO:0005045
    • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
    • CMD with rigid spine
    • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310