MYH2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• myopathy, proximal, and ophthalmoplegia

  0.78

• Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia

  0.69

• childhood-onset autosomal recessive myopathy with external ophthalmoplegia

  0.66

• hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

  0.44

• cutaneous leishmaniasis

  0.37

• myopathy

  0.33

• skin disorder

  0.28

• hereditary disease

  0.19

• limb-girdle muscular dystrophy

  0.12

• muscular dystrophy

  0.12

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

Protein function (UniProt)