PRNP

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

• Adult onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Gerstmann-Straussler-Scheinker syndrome

  0.83

• Creutzfeldt Jacob disease

  0.79

• Huntington disease-like 1

  0.76

• fatal familial insomnia

  0.72

• inherited Creutzfeldt-Jakob disease

  0.72

• dementia

  0.51

• neurodegenerative disease

  0.51

• hereditary disease

  0.49

• prion disease

  0.48

• cerebral amyloid angiopathy

  0.48

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

Protein function (UniProt)