ARX

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

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

• DDG2P

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

• Differences in sex development

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

• Early onset dystonia

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

• Early onset or syndromic epilepsy

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

• Fetal anomalies

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

• Intellectual disability

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

• Intestinal failure or congenital diarrhoea

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

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Disease associations (Open Targets)

• X-linked lissencephaly with abnormal genitalia

  0.81

• Spasticity - intellectual disability - X-linked epilepsy

  0.80

• developmental and epileptic encephalopathy, 1

  0.79

• Partington syndrome

  0.77

• intellectual disability, X-linked, with or without seizures, ARX-related

  0.76

• corpus callosum agenesis-abnormal genitalia syndrome

  0.76

• X-linked non-syndromic intellectual disability

  0.71

• X-linked spasticity-intellectual disability-epilepsy syndrome

  0.62

• genetic developmental and epileptic encephalopathy

  0.61

• hereditary disease

  0.52

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

Protein function (UniProt)