CDH2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric disorders - additional genes

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Arrhythmogenic right ventricular cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• agenesis of corpus callosum, cardiac, ocular, and genital syndrome

  0.80

• arrhythmogenic right ventricular dysplasia, familial, 14

  0.58

• Agenesis of corpus callosum

  0.51

• attention deficit-hyperactivity disorder 8

  0.50

• familial isolated arrhythmogenic ventricular dysplasia, right dominant form

  0.37

• neurodegenerative disease

  0.34

• auditory neuropathy

  0.33

• aortic valve disorder

  0.33

• mathematical ability

  0.31

• ventricular fibrillation

  0.31

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

Protein function (UniProt)