KIF2A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Genetic central nervous system malformation

  0.75

• neurodegenerative disease

  0.40

• major depressive disorder

  0.33

• hypertensive disorder

  0.30

• insomnia

  0.28

• Abnormal cerebral morphology

  0.26

• liver disorder

  0.26

• post-traumatic stress disorder

  0.22

• Sjogren syndrome

  0.22

• bone fracture

  0.22

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

Protein function (UniProt)