RYR2

ryanodine receptor 2
OMIM: 180902
PanelMode of inheritanceDetails
3 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 2, 600996, Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden cardiac death
R-numbers: R129
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 1, Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772), Arrhythmogenic right ventricular dysplasia 2 (600996), Catecholaminergic polymorphic ventricular tachycardia, catecholaminergic polymorphic ventricular tachycardia
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2 (600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)