DSC2

desmocollin 2
OMIM: 125645, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DSC2 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Striate keratoderma with woolly hair
  • Arrhythmogenic right ventricular dysplasia 11, 610476
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476

Green DSC2 in Ichthyosis and erythrokeratoderma


Version 1.60
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476

Green DSC2 in Palmoplantar keratodermas


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

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair

Green DSC2 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Expert list
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11
    • Arrhythmogenic right ventricular dysplasia 11 (610476)
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)

    Red DSC2 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.67

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • Expert list

    Green DSC2 in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.13
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert List
    • Expert Review Green
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
    • Arrhythmogenic right ventricular dysplasia 11
    • Arrhythmogenic right ventricular dysplasia 11 (610476)

    Red DSC2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.394

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

    Green DSC2 in Cardiomyopathies - including childhood onset


    Version 1.19
    Latest signed off version: v1.4 (19 Feb 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
    • Arrhythmogenic right ventricular dysplasia 11

    Red DSC2 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.28
    Latest signed off version: v1.27 (16 Dec 2021)

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