JUP

junction plakoglobin
OMIM: 173325, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green JUP in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Naxos disease, OMIM:601214
  • Palmoplantar keratoderma, keratoderma with woolly hair, generalised skin fragility, epidermolysis bullosa
Green JUP in Ichthyosis and erythrokeratoderma


Version 3.22
Latest signed off version: v3.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
Green JUP in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Naxos disease, OMIM:601214
  • Generalised skin fragility, epidermolysis bullosa
Green JUP in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
  • Generalised skin fragility, epidermolysis bullosa
Green JUP in Palmoplantar keratodermas


Version 3.24
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
  • Palmoplantar keratoderma, keratoderma with woolly hair
Tags
  • Q4_22_MOI
Green JUP in Arrhythmogenic right ventricular cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 3.9
Latest signed off version: v3.5 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • UKGTN
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Naxos disease, OMIM:601214
    • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
    Red JUP in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • Expert list
    Phenotypes
    • Naxos disease, OMIM:601214
    • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
    Green JUP in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.20
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert List
    • Expert Review Green
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Naxos disease, OMIM:601214
    • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
    Red JUP in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

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


    Version 3.43
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    • Expert Review Green
    Phenotypes
    • Naxos disease, OMIM:601214
    • Arrhythmogenic right ventricular dysplasia 12, OMIM:611528
    Red JUP in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Green JUP in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 12, 611528
    • Naxos disease, 601214