RYR2

ryanodine receptor 2
OMIM: 180902, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 3.12 Latest signed off version: v3.11 (1 May 2024) 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	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 3.11 Latest signed off version: v3.10 (1 May 2024) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 3.8 Latest signed off version: v3.7 (1 May 2024) 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 4.6 Latest signed off version: v4.5 (1 May 2024) 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	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 2.25 Latest signed off version: v2.23 (1 May 2024) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 4.3 Latest signed off version: v4.0 (1 May 2024) 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 1.478	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 5.6 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders 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 Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) 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 4.3 Latest signed off version: v4.0 (1 May 2024) 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 4.8 Latest signed off version: v4.0 (1 May 2024)	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