TH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Neurotransmitter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Parkinson Disease and Complex Parkinsonism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Autosomal recessive dopa-responsive dystonia

  0.85

• TH-deficient dopa-responsive dystonia

  0.78

• dopa-responsive dystonia

  0.64

• tyrosine hydroxylase deficiency

  0.56

• dystonia 5

  0.54

• pheochromocytoma

  0.47

• adrenal gland pheochromocytoma

  0.46

• Intellectual disability

  0.45

• Dystonia

  0.43

• dystonic disorder

  0.42

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

Protein function (UniProt)