ATP13A2

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 hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Kufor-Rakeb syndrome

  0.84

• autosomal recessive spastic paraplegia type 78

  0.80

• parkinsonism due to ATP13A2 deficiency

  0.74

• Spastic paraplegia

  0.56

• hereditary disease

  0.53

• Parkinson disease

  0.52

• neurodegeneration with brain iron accumulation

  0.52

• Hereditary late-onset Parkinson disease

  0.51

• Dystonia

  0.51

• complex hereditary spastic paraplegia

  0.50

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

Protein function (UniProt)