C19orf12

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

• Early onset dystonia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neurodegeneration with brain iron accumulation 4

  0.85

• neurodegeneration with brain iron accumulation

  0.78

• Autosomal recessive spastic paraplegia type 43

  0.72

• hereditary spastic paraplegia 43

  0.65

• hereditary spastic paraplegia

  0.46

• hereditary disease

  0.39

• Dystonia

  0.34

• Mental deterioration

  0.34

• spastic ataxia

  0.34

• dystonic disorder

  0.34

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

Protein function (UniProt)