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 0.68

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review 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 1.33

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review 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

    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 0.301

    review 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 0.132

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green DSC2 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    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 0.192

    review 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

    review 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

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Amber DSC2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    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 Superpanel


    Level 2: Screening
    Version 0.18

    review 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