CACNB4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paroxysmal central nervous system disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• epilepsy

  0.64

• episodic ataxia type 5

  0.60

• neuropathic pain

  0.60

• fibromyalgia

  0.60

• Seizure

  0.60

• restless legs syndrome

  0.59

• postherpetic neuralgia

  0.57

• anxiety disorder

  0.57

• neuralgia

  0.56

• Focal-onset seizure

  0.52

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

Protein function (UniProt)