EMD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital muscular dystrophy

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

• Dilated and arrhythmogenic cardiomyopathy

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

• Fetal anomalies

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

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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

• Paediatric or syndromic cardiomyopathy

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

• Progressive cardiac conduction disease

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

• Arthrogryposis

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

• Dilated Cardiomyopathy and conduction defects

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

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Disease associations (Open Targets)

• X-linked Emery-Dreifuss muscular dystrophy

  0.80

• Emery-Dreifuss muscular dystrophy

  0.70

• Abnormality of the cardiovascular system

  0.51

• neuromuscular disease

  0.46

• heart conduction disease

  0.37

• myopathy

  0.35

• X-linked myopathy with postural muscle atrophy

  0.35

• neurodegenerative disease

  0.34

• Failure to thrive

  0.34

• Flexion contracture

  0.34

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

Protein function (UniProt)