ATN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset dystonia, chorea or related movement disorder

  Other

• Adult onset neurodegenerative disorder

  Other

• Ataxia and cerebellar anomalies - narrow panel

  Other

• Brain channelopathy

  Other

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Disease associations (Open Targets)

• congenital hypotonia, epilepsy, developmental delay, and digital anomalies

  0.74

• dentatorubral-pallidoluysian atrophy

  0.64

• Dentatorubral pallidoluysian atrophy

  0.46

• hereditary disease

  0.19

• Neck pain

  0.12

• Intellectual disability

  0.12

• Hydrocephalus with stenosis of the aqueduct of Sylvius

  0.12

• X-linked hydrocephalus with stenosis of the aqueduct of Sylvius

  0.12

• Huntington disease

  0.07

• Leber congenital amaurosis

  0.05

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

Protein function (UniProt)