MYH9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Haematuria

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Monogenic hearing loss

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Proteinuric renal disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Unexplained kidney failure in young people

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

  0.86

• MYH9-related disease

  0.80

• autosomal dominant nonsyndromic hearing loss 17

  0.75

• autosomal dominant nonsyndromic hearing loss 2A

  0.57

• autosomal dominant nonsyndromic hearing loss

  0.57

• deafness

  0.53

• Thrombocytopenia

  0.51

• Macrothrombocytopenia

  0.48

• neurodegenerative disease

  0.47

• hereditary disease

  0.45

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

Protein function (UniProt)