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  1. Genes and Genomic Entities
  2. ACTN2

ACTN2

actinin alpha 2
OMIM: 102573, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ACTN2 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.48

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158
    • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349

    Green ACTN2 in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.10

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158
    • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349

    Green ACTN2 in Mendeliome


    Version 1.3512

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, distal, 6, adult onset MIM#618655
    • Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158
    • Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158
    • Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654

    Green ACTN2 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  4 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Congenital Myopathy 8 (MIM#618654
    • MONDO: 0032852)
    • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349

    Green ACTN2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Amber
    Phenotypes
    • Myopathy, distal, 6, adult onset MIM#618655
    • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349

    Green ACTN2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Dilated Cardiomyopathy, Dominant
    • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349

    Red ACTN2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category B gene
    Phenotypes
    • Cardiomyopathy, familial hypertrophic
    • Cardiomyopathy, dilated

    Red ACTN2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • BabySeq Category B gene
    • Expert Review Red
    Phenotypes
    • Cardiomyopathy, familial hypertrophic
    • Cardiomyopathy, dilated