ARHGEF9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

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

• 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 8

  0.80

• Hyperekplexia - epilepsy

  0.60

• hereditary disease

  0.53

• X-linked intellectual disability - epilepsy

  0.52

• X-linked complex neurodevelopmental disorder

  0.37

• Global developmental delay

  0.34

• Seizure

  0.34

• developmental disability

  0.34

• Neurodevelopmental delay

  0.27

• alopecia

  0.24

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

Protein function (UniProt)