PRRT2

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

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• episodic kinesigenic dyskinesia 1

  0.82

• infantile convulsions and choreoathetosis

  0.80

• benign familial infantile epilepsy

  0.78

• episodic kinesigenic dyskinesia

  0.76

• hereditary disease

  0.53

• Seizure

  0.52

• PRRT2-associated paroxysmal movement disorder

  0.49

• neurodegenerative disease

  0.47

• autosomal recessive non-syndromic intellectual disability

  0.42

• Paroxysmal exertion-induced dyskinesia

  0.39

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

Protein function (UniProt)