MYH8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Trismus - pseudocamptodactyly

  0.67

• trismus-pseudocamptodactyly syndrome

  0.67

• Carney complex-trismus-pseudocamptodactyly syndrome

  0.62

• Carney complex - trismus - pseudocamptodactyly syndrome

  0.57

• respiratory tract infectious disorder

  0.25

• Thromboembolism

  0.25

• digitotalar dysmorphism

  0.15

• neuromuscular disease

  0.15

• hereditary disease

  0.15

• limb-girdle muscular dystrophy

  0.12

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

Protein function (UniProt)