DMD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Congenital muscular dystrophy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Dilated and arrhythmogenic cardiomyopathy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Dilated Cardiomyopathy and conduction defects

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Duchenne or Becker muscular dystrophy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Gastrointestinal neuromuscular disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• Duchenne muscular dystrophy

  0.87

• Becker muscular dystrophy

  0.82

• dilated cardiomyopathy 3B

  0.79

• muscular dystrophy

  0.66

• familial isolated dilated cardiomyopathy

  0.63

• progressive muscular dystrophy

  0.62

• neuromuscular disease caused by qualitative or quantitative defects of dystrophin

  0.59

• Abnormality of the cardiovascular system

  0.55

• cardiomyopathy

  0.55

• Elevated circulating creatine kinase concentration

  0.55

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

Protein function (UniProt)