RYR2

ryanodine receptor 2
OMIM: 180902, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red RYR2 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
    Tags
    • refuted
    Green RYR2 in Catecholaminergic Polymorphic Ventricular Tachycardia


    Level 2: Cardiovascular disorders
    Version 0.35

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
    Red RYR2 in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 1.0

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Hypertrophic cardiomyopathy
    Green RYR2 in Incidentalome


    Version 0.318

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
    • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
    • Hypertrophic cardiomyopathy
    Tags
    • cardiac
    Green RYR2 in Additional findings_Adult


    Level 2: Screening
    Version 0.167

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2 , MIM#600996
    • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
    Green RYR2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
    • Arrhythmogenic right ventricular dysplasia 2, 600996
    Green RYR2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic
    • Arrhythmogenic right ventricular dysplasia 2
    Green RYR2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green
    Green RYR2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2
    • Ventricular tachycardia, catecholaminergic polymorphic
    Tags
    • cardiac
    • treatable
    Green RYR2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772
    • Arrhythmogenic right ventricular dysplasia 2 , MIM#600996