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
No list MYH7 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green MYH7 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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 Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.12
    Latest signed off version: v4.8 (1 May 2024)

    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 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
    Tags
    • watchlist_moi
    Green MYH7 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    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
    Tags
    • watchlist_moi
    Red MYH7 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Laing distal myopathy, OMIM:160500
    • Laing early-onset distal myopathy, MONDO:0008050
    Green MYH7 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • Myopathy, myosin storage, autosomal dominant, OMIM:608358
    • Myopathy, myosin storage, autosomal recessive, OMIM:255160
    Tags
    • Q4_22_MOI
    • Q2_23_NHS_review
    Green MYH7 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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
    • Myopathy, myosin storage, autosomal dominant, OMIM:608358
    • Myopathy, myosin storage, autosomal recessive, OMIM:255160
    • Scapuloperoneal syndrome, myopathic type, OMIM:181430
    Tags
    • Q4_22_MOI
    Green MYH7 in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.25
    Latest signed off version: v2.23 (1 May 2024)

    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 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
    Tags
    • watchlist_moi
    Green MYH7 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • 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
    Red MYH7 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Green MYH7 in Paediatric disorders - additional genes


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    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 1.184

    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