ATP7B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Brain channelopathy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Iron metabolism disorders - NOT common HFE mutations

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Wilson disease

  0.87

• hereditary disease

  0.55

• Dystonia

  0.50

• genetic developmental and epileptic encephalopathy

  0.36

• spastic ataxia

  0.34

• developmental and epileptic encephalopathy 93

  0.34

• hearing loss, autosomal recessive

  0.34

• intellectual disability, Wolff type

  0.34

• Epileptic encephalopathy

  0.29

• Hand tremor

  0.27

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

Protein function (UniProt)