MYPN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

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Disease associations (Open Targets)

• dilated cardiomyopathy 1KK

  0.81

• MYPN-related myopathy

  0.74

• Abnormality of the cardiovascular system

  0.54

• familial isolated dilated cardiomyopathy

  0.52

• familial isolated restrictive cardiomyopathy

  0.52

• cap myopathy

  0.46

• Rare familial disorder with hypertrophic cardiomyopathy

  0.45

• childhood-onset nemaline myopathy

  0.38

• dilated cardiomyopathy

  0.35

• inflammatory bowel disease

  0.35

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

Protein function (UniProt)