ATP1A2

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

  BIALLELIC, autosomal or pseudoautosomal

• Brain channelopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial cerebral small vessel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• migraine, familial hemiplegic, 2

  0.83

• alternating hemiplegia of childhood 1

  0.77

• developmental and epileptic encephalopathy 98

  0.73

• fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies

  0.72

• alternating hemiplegia of childhood

  0.69

• familial or sporadic hemiplegic migraine

  0.67

• familial hemiplegic migraine

  0.65

• congestive heart failure

  0.60

• atrial fibrillation

  0.59

• heart failure

  0.58

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

Protein function (UniProt)

Diseases associated with ATP1A2

Curated MONDO disease pages that list ATP1A2 among their top associated genes.

• hydrops fetalisRare