MYH7

myosin heavy chain 7
OMIM: 160760, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green MYH7 in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Left ventricular noncompaction 5, OMIM:613426
  • Dilated cardiomyopathy 1S, MONDO:0013262

Green MYH7 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.31
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    • Scapuloperoneal syndrome, myopathic type, OMIM:181430
    • MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409

    Green MYH7 in Neuromuscular disorders


    Version 5.241
    Latest signed off version: v5.43 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Laing distal myopathy, 160500

    Green MYH7 in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.27
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Cardiomyopathy, hypertrophic, 1, OMIM:192600
    • Hypertrophic cardiomyopathy 1, MONDO:0008647

    Green MYH7 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.70

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Cardiomyopathy, dilated, 1S, OMIM:613426
    • Dilated cardiomyopathy 1S, MONDO:0013262

    Green MYH7 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.129
    Latest signed off version: v3.2 (13 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert
    • UKGTN
    • Expert list
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    Tags
    • for-review

    Green MYH7 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.59
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    • Myopathy, myosin storage, autosomal dominant, OMIM:608358
    • Myopathy, myosin storage, autosomal dominant, MONDO:0012018

    Green MYH7 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.29
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    • Scapuloperoneal syndrome, myopathic type, OMIM:181430
    • MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
    • Cardiomyopathy, hypertrophic, 1, OMIM:192600
    • Hypertrophic cardiomyopathy 1, MONDO:0008647
    • Cardiomyopathy, dilated, 1S, OMIM:613426
    • Dilated cardiomyopathy 1S, MONDO:0013262
    • Myopathy, myosin storage, autosomal dominant, OMIM:608358
    • Myopathy, myosin storage, autosomal dominant, MONDO:0012018

    Green MYH7 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1S, OMIM:613426
    • Dilated cardiomyopathy 1S, MONDO:0013262
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050

    Amber MYH7 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    • Cardiomyopathy, hypertrophic, 1, OMIM:192600
    • Hypertrophic cardiomyopathy 1, MONDO:0008647
    • Cardiomyopathy, dilated, 1S, OMIM:613426
    • Dilated cardiomyopathy 1S, MONDO:0013262
    • Left ventricular noncompaction 5, OMIM:613426
    Tags
    • for-review

    Red MYH7 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.416

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green MYH7 in Paediatric disorders - additional genes


    Version 1.94
    Latest signed off version: v1.1 (11 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    • Scapuloperoneal syndrome, myopathic type, OMIM:181430
    • MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
    • Cardiomyopathy, hypertrophic, 1, OMIM:192600
    • Hypertrophic cardiomyopathy 1, MONDO:0008647
    • Cardiomyopathy, dilated, 1S, OMIM:613426
    • Dilated cardiomyopathy 1S, MONDO:0013262
    • Myopathy, myosin storage, autosomal dominant, OMIM:608358
    • Myopathy, myosin storage, autosomal dominant, MONDO:0012018
    • Left ventricular noncompaction 5, OMIM:613426

    Green MYH7 in Cardiomyopathies - including childhood onset


    Version 1.56
    Latest signed off version: v1.4 (19 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, hypertrophic, 1, OMIM:192600
    • Hypertrophic cardiomyopathy 1, MONDO:0008647
    • Cardiomyopathy, dilated, 1S, OMIM:613426
    • Dilated cardiomyopathy 1S, MONDO:0013262
    • Left ventricular noncompaction 5, OMIM:613426

    Red MYH7 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.63
    Latest signed off version: v1.36 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green MYH7 in Severe Paediatric Disorders


    Version 1.84

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Laing distal myopathy, 160500
    • Myopathy, myosin storage, autosomal dominant, 608358
    • Myopathy, myosin storage, autosomal recessive, 255160
    • Cardiomyopathy, hypertrophic, 1, 192600
    • Left ventricular noncompaction 5, 613426
    • Scapuloperoneal syndrome, myopathic type, 181430
    • Cardiomyopathy, dilated, 1S, 613426