DSC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arrhythmogenic right ventricular cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ichthyosis and erythrokeratoderma

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BIALLELIC, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Arrhythmogenic right ventricular dysplasia

  0.78

• familial isolated arrhythmogenic right ventricular dysplasia

  0.75

• arrhythmogenic right ventricular cardiomyopathy

  0.63

• Abnormality of the cardiovascular system

  0.56

• neurodegenerative disease

  0.49

• atrial fibrillation

  0.41

• cardiomyopathy

  0.39

• familial isolated arrhythmogenic ventricular dysplasia, left dominant form

  0.37

• familial isolated arrhythmogenic ventricular dysplasia, biventricular form

  0.37

• wooly hair-palmoplantar keratoderma syndrome

  0.37

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

Protein function (UniProt)