THAP1

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

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Parkinson Disease and Complex Parkinsonism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Primary dystonia, DYT6 type

  0.79

• torsion dystonia 6

  0.74

• Dystonia

  0.53

• neurodegenerative disease

  0.53

• hereditary disease

  0.41

• Torsion dystonia

  0.37

• multiple mitochondrial dysfunctions syndrome 9b

  0.33

• dystonic disorder

  0.26

• young-onset Parkinson disease

  0.12

• Fuchs endothelial corneal dystrophy

  0.08

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

Protein function (UniProt)