CNKSR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

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

• Fetal anomalies

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

Disease associations (Open Targets)

• X-linked dominant intellectual disability - epilepsy syndrome

  0.77

• cancer

  0.61

• Noonan syndrome

  0.53

• hypertrophic cardiomyopathy

  0.50

• Costello syndrome

  0.50

• hereditary disease

  0.49

• Intellectual disability

  0.44

• schizophrenia

  0.42

• non-syndromic X-linked intellectual disability

  0.37

• X-linked complex neurodevelopmental disorder

  0.37

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

Protein function (UniProt)