VPS13A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Parkinson Disease and Complex Parkinsonism

  BIALLELIC, autosomal or pseudoautosomal

• Structural basal ganglia disorders

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Choreoacanthocytosis

  0.84

• chorea-acanthocytosis

  0.72

• neurodegenerative disease

  0.54

• hereditary disease

  0.47

• open-angle glaucoma

  0.30

• cholelithiasis

  0.29

• cervical carcinoma

  0.29

• bone fracture

  0.29

• diabetes mellitus

  0.28

• alcohol drinking

  0.27

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

Protein function (UniProt)