NEB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myopathy

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Distal myopathies

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• nemaline myopathy 2

  0.78

• arthrogryposis multiplex congenita

  0.75

• nemaline myopathy

  0.73

• hereditary disease

  0.52

• severe congenital nemaline myopathy

  0.51

• Abnormality of the skeletal system

  0.48

• typical nemaline myopathy

  0.47

• congenital myopathy

  0.46

• distal myopathy

  0.42

• childhood-onset nemaline myopathy

  0.39

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

Protein function (UniProt)