KIF4A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• intellectual disability, X-linked 100

  0.62

• neurodegenerative disease

  0.54

• taurodontism, microdontia, and dens invaginatus

  0.48

• Hydrocephalus

  0.44

• X-linked non-syndromic intellectual disability

  0.42

• Agenesis of corpus callosum

  0.26

• Ventriculomegaly

  0.26

• multicystic dysplastic kidney

  0.26

• isolated cerebellar hypoplasia/agenesis

  0.26

• Obesity

  0.12

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

Protein function (UniProt)