GCH1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset dystonia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

+7 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• dystonia 5

  0.84

• GTP cyclohydrolase I deficiency with hyperphenylalaninemia

  0.81

• Hyperphenylalaninemia

  0.78

• GTP cyclohydrolase I deficiency

  0.75

• Dystonia

  0.64

• Spastic paraplegia

  0.52

• Autosomal recessive dopa-responsive dystonia

  0.50

• dystonic disorder

  0.46

• hereditary disease

  0.45

• dopa-responsive dystonia

  0.45

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

Protein function (UniProt)