TOR1A

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

• Arthrogryposis

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Structural basal ganglia disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• arthrogryposis multiplex congenita 5

  0.77

• early-onset generalized limb-onset dystonia

  0.72

• dystonic disorder

  0.62

• Primary dystonia, DYT4 type

  0.60

• Dystonia

  0.52

• hereditary disease

  0.45

• prostate carcinoma

  0.39

• arthrogryposis multiplex congenita

  0.37

• nervous system disorder

  0.28

• herpes zoster

  0.27

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

Protein function (UniProt)