MYL2

myosin light chain 2
OMIM: 160781, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green MYL2 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 0.178

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic, 10, MIM# 608758

    Green MYL2 in Incidentalome


    Version 0.301

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424
    • Cardiomyopathy, hypertrophic, 10, MIM# 608758
    Tags
    • cardiac

    Green MYL2 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Cardiomyopathy, hypertrophic, 10, MIM# 608758

    Green MYL2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)

    Green MYL2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • South West GLH
    • NHS GMS
    Phenotypes
    • Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424
    • Cardiomyopathy, hypertrophic, 10, MIM# 608758

    Amber MYL2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 10

    Green MYL2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber MYL2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category B gene
    • Expert Review Amber
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 10

    Green MYL2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic, 10, MIM# 608758