EPM2A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dementia (encompassing fronto-temporal dementia and prion disease)

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• myoclonic epilepsy of Lafora 1

  0.82

• Lafora disease

  0.72

• Progressive myoclonic epilepsy

  0.57

• hereditary disease

  0.50

• neurodegenerative disease

  0.42

• Parkinson disease

  0.41

• Alzheimer disease

  0.40

• lysosomal storage disease

  0.40

• multiple sclerosis

  0.40

• disorder of glycogen metabolism

  0.37

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