MYBPC3

myosin binding protein C, cardiac
OMIM: 600958, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green MYBPC3 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 10,
  • Hypertrophic cardiomyopathy
Green MYBPC3 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    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, familial hypertrophic, 4,
    • Cardiomyopathy, hypertrophic, 4 (115197)
    • Left ventricular noncompaction 10 (615396)
    • Cardiomyopathy, dilated, 1MM (615396)
    Green MYBPC3 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    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, hypertrophic, 4 (115197)
    • Left ventricular noncompaction 10 (615396)
    • Cardiomyopathy, dilated, 1MM
    • Cardiomyopathy, dilated, 1MM (615396)
    Amber MYBPC3 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Cardiomyopathy, dilated, 1MM, OMIM:615396
    • Cardiomyopathy, hypertrophic, 4, OMIM:115197
    Tags
    • watchlist
    Green MYBPC3 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, NOT imprinted
    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, 1MM
    • Cardiomyopathy, hypertrophic, 4 (115197)
    • Left ventricular noncompaction 10 (615396)
    • Cardiomyopathy, dilated, 1MM (615396)
    Amber MYBPC3 in Fetal anomalies


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

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review
    Phenotypes
    • Cardiomyopathy
    • ?Congenital myopathy
    Red MYBPC3 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 MYBPC3 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, familial hypertrophic, 4,
    • Cardiomyopathy, dilated, 1MM
    • Hypertrophic cardiomyopathy
    • Left ventricular noncompaction 10,
    Red MYBPC3 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