PanelApp
  1. Genes and Genomic Entities
  2. MYH2

MYH2

myosin heavy chain 2
OMIM: 160740, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MYH2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.427

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proximal myopathy and ophthalmoplegia, MIM# 605637

    Red MYH2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.400

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Congenital myopathy 6 with ophthalmoplegia, MIM#605637

    Green MYH2 in Mendeliome


    Version 1.3512

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proximal myopathy and ophthalmoplegia, MIM# 605637

    Green MYH2 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

    		•  2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    Phenotypes
    • Myopathy, proximal, and ophthalmoplegia MONDO:0011577

    Green MYH2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Proximal myopathy and ophthalmoplegia

    Green MYH2 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.10

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Proximal myopathy and ophthalmoplegia, MIM# 605637

    Green MYH2 in Fetal anomalies


    Version 1.465

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Proximal myopathy and ophthalmoplegia, OMIM:605637
    • Myopathy, proximal, and ophthalmoplegia, MONDO:0011577

    Red MYH2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Proximal myopathy and ophthalmoplegia, MIM# 605637