PNKD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paroxysmal central nervous system disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• paroxysmal nonkinesigenic dyskinesia 1

  0.76

• paroxysmal nonkinesigenic dyskinesia

  0.72

• paroxysmal dyskinesia

  0.33

• paroxysmal dystonia

  0.33

• Episodic hemiplegia

  0.33

• Moyamoya disease

  0.26

• hereditary disease

  0.19

• metabolic disease

  0.18

• colorectal cancer

  0.12

• young-onset Parkinson disease

  0.12

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

Protein function (UniProt)