RYR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Catecholaminergic polymorphic VT

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Idiopathic ventricular fibrillation

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Arrhythmogenic right ventricular cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• catecholaminergic polymorphic ventricular tachycardia 1

  0.83

• catecholaminergic polymorphic ventricular tachycardia

  0.74

• ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

  0.74

• Arrhythmogenic right ventricular dysplasia

  0.66

• Abnormality of the cardiovascular system

  0.55

• cardiomyopathy

  0.55

• Prolonged QT interval

  0.45

• arrhythmogenic right ventricular cardiomyopathy

  0.43

• Abnormality of the skeletal system

  0.43

• diverticular disease

  0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)