KCNQ3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Benign familial neonatal seizures

  0.79

• Seizure

  0.61

• multiple sclerosis

  0.59

• Lambert-Eaton myasthenic syndrome

  0.56

• benign neonatal seizures

  0.56

• myasthenia gravis

  0.56

• epilepsy

  0.52

• hereditary disease

  0.50

• congenital myasthenic syndrome

  0.49

• Congenital myasthenic syndromes

  0.49

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

Protein function (UniProt)