ADCY5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset dystonia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paroxysmal central nervous system disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal Muscle Channelopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dyskinesia with orofacial involvement, autosomal dominant

  0.78

• Familial dyskinesia and facial myokymia

  0.75

• dyskinesia with orofacial involvement, autosomal recessive

  0.70

• neurodevelopmental disorder with hyperkinetic movements and dyskinesia

  0.66

• hereditary disease

  0.53

• type 2 diabetes mellitus

  0.51

• diabetes mellitus

  0.47

• dyskinesia with orofacial involvement

  0.46

• chronic obstructive pulmonary disease

  0.40

• diabetic neuropathy

  0.39

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

Protein function (UniProt)