MYH3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Congenital myopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Freeman-Sheldon syndrome

  0.80

• arthrogryposis, distal, type 2B3

  0.78

• contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

  0.77

• contractures, pterygia, and variable skeletal fusions syndrome 1B

  0.76

• Autosomal dominant multiple pterygium syndrome

  0.72

• spondylocarpotarsal synostosis syndrome

  0.62

• contractures, pterygia, and variable skeletal fusions syndrome

  0.54

• hereditary disease

  0.50

• Spondylocarpotarsal synostosis

  0.46

• distal arthrogryposis

  0.46

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

Protein function (UniProt)