PKP2

plakophilin 2
OMIM: 602861, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red PKP2 in Palmoplantar keratodermas


Version 1.7
Latest signed off version: v1.3 (15 Oct 2020)

review Not set
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Desmosomal disorders

Red PKP2 in Short QT syndrome


Version 2.7
Latest signed off version: v2.4 (20 Aug 2020)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Brugada syndrome (Version 1.7)
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 9 (609040)

    Green PKP2 in Arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.9 (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
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 9 (609040)
    • Arrhythmogenic right ventricular cardiomyopathy
    • Arrhythmogenic right ventricular dysplasia 9

    Red PKP2 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Oxford Medical Genetics Laboratory

    Red PKP2 in Brugada syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.33
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Literature
    Phenotypes
    • Brugada syndrome, MONDO:0015263

    Green PKP2 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.24
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert List
    • Expert Review Green
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Arrhythmogenic right ventricular cardiomyopathy
    • Arrhythmogenic right ventricular dysplasia 9
    • Arrhythmogenic right ventricular dysplasia 9 (609040)

    Red PKP2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.384

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

    Green PKP2 in Cardiomyopathies - including childhood onset


    Version 1.39
    Latest signed off version: v1.4 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Arrhythmogenic right ventricular cardiomyopathy
    • Arrhythmogenic right ventricular dysplasia 9

    Red PKP2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

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