XK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult 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)

• 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)

• Cytopenias and congenital anaemias

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

• Early onset dementia (encompassing fronto-temporal dementia and prion disease)

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

• Hereditary neuropathy

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

• Hereditary neuropathy or pain disorder

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

• Rare anaemia

  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)

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Disease associations (Open Targets)

• McLeod neuroacanthocytosis syndrome

  0.81

• hereditary disease

  0.41

• Elevated circulating creatine kinase concentration

  0.26

• infection

  0.10

• influenza

  0.08

• Huntington disease

  0.08

• Distal myopathy, Nonaka type

  0.05

• amyotrophic lateral sclerosis

  0.05

• amyotrophic lateral sclerosis type 20

  0.05

• myopathy, distal, 6, adult-onset, autosomal dominant

  0.05

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

Protein function (UniProt)