PANK2

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

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Parkinson Disease and Complex Parkinsonism

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• pantothenate kinase-associated neurodegeneration

  0.85

• hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

  0.71

• Dystonia

  0.63

• hereditary disease

  0.50

• neurodegeneration with brain iron accumulation

  0.47

• retinitis pigmentosa

  0.45

• Neurodegeneration

  0.43

• Retinal dystrophy

  0.43

• dystonic disorder

  0.40

• classic pantothenate kinase-associated neurodegeneration

  0.38

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

Protein function (UniProt)