PKP2

plakophilin 2
OMIM: 602861, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red PKP2 in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review Not set
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Desmosomal disorders
Red PKP2 in Short QT syndrome


Version 3.12
Latest signed off version: v3.11 (1 May 2024)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • 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
    • North West GLH
    • Brugada syndrome (Version 1.7)
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 9 (609040)
    Green PKP2 in Arrhythmogenic right ventricular cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.10 (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
    • 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 1.85

    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 and cardiac sodium channel disease

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.10
    Latest signed off version: v3.9 (1 May 2024)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • 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
    • Literature
    Phenotypes
    • Brugada syndrome, MONDO:0015263
    Green PKP2 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 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 1.478

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Green PKP2 in Paediatric or syndromic cardiomyopathy


    Version 4.6
    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 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 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