RYR2

ryanodine receptor 2
OMIM: 180902, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Green RYR2 in Idiopathic ventricular fibrillation

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, OMIM:115000
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
No list RYR2 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, 600996
  • Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
Tags
  • curated_removed
Red RYR2 in Short QT syndrome


Version 3.10
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Long QT syndrome (Version 1.5)
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2 (600996)
    • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
    Red RYR2 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • South West GLH
    • London South GLH
    • Wessex and West Midlands GLH
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2
    • Arrhythmogenic right ventricular dysplasia 2 (600996)
    • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
    Tags
    • deletions
    Red RYR2 in Long QT syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.7
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • London South GLH
    • Literature
    Phenotypes
    • Long QT syndrome
    • Catecholaminergic polymorphic ventricular tachycardia
    • Arrhythmogenic right ventricular cardiomyopathy
    Red RYR2 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • UKGTN
    Phenotypes
    • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
    Green RYR2 in Catecholaminergic polymorphic VT

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 4.4
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772
    Green RYR2 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert List
    • South West GLH
    • London South GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2
    • Arrhythmogenic right ventricular dysplasia 2 (600996)
    • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
    Red RYR2 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability
    Red RYR2 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
    Amber RYR2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
    Amber RYR2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Green RYR2 in Paediatric or syndromic cardiomyopathy


    Version 3.44
    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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    Phenotypes
    • Arrhythmogenic right ventricular dysplasia 2, 600996
    • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
    Red RYR2 in Hereditary neuropathy or pain disorder


    Version 3.89
    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 RYR2 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772
    • Arrhythmogenic right ventricular dysplasia 2, 600996