DSC2

desmocollin 2
OMIM: 125645, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green DSC2 in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 0.73

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 2 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476

    Red DSC2 in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.48

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476

    Green DSC2 in Desmosomal disorders


    Level 2: Dermatological disorders
    Version 0.33

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476

    Green DSC2 in Incidentalome


    Version 0.360

    3 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
    Tags
    • cardiac

    Green DSC2 in Palmoplantar Keratoderma and Erythrokeratoderma


    Level 2: Dermatological disorders
    Version 0.136

    0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DSC2 in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476

    Green DSC2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

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

    Amber DSC2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Arrhythmogenic right ventricular cardiomyopathy

    Green DSC2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber DSC2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
    Tags
    • cardiac
    • treatable

    Green DSC2 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    0 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
    • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476