SLC9A6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  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

• 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)

• Hereditary ataxia

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

• Hereditary ataxia with onset in adulthood

  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)

• Severe microcephaly

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

• Adult onset neurodegenerative disorder

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

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Christianson syndrome

  0.83

• Intellectual disability

  0.54

• hereditary disease

  0.45

• microcephaly

  0.40

• Angelman syndrome

  0.39

• neurodegenerative disease

  0.37

• Seizure

  0.29

• Global developmental delay

  0.26

• Sleep disturbance

  0.26

• Recurrent respiratory infections

  0.26

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

Protein function (UniProt)