KIF21A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital fibrosis of the extraocular muscles

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

Disease associations (Open Targets)

• congenital fibrosis of the extraocular muscles

  0.81

• congenital fibrosis of extraocular muscles

  0.53

• arthrogryposis

  0.46

• hereditary disease

  0.42

• fetal akinesia deformation sequence 1

  0.37

• fetal akinesia deformation sequence

  0.37

• Abnormality of eye movement

  0.34

• bipolar disorder

  0.29

• metabolic disease

  0.29

• parasitic infectious disease

  0.21

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

Protein function (UniProt)