EIF2B3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• CACH syndrome

  0.78

• leukoencephalopathy with vanishing white matter

  0.74

• leukoencephalopathy with vanishing white matter 1

  0.69

• leukoencephalopathy with vanishing white matter 3

  0.62

• ovarioleukodystrophy

  0.46

• late infantile CACH syndrome

  0.37

• congenital or early infantile CACH syndrome

  0.37

• juvenile or adult CACH syndrome

  0.37

• hypothyroidism

  0.25

• hereditary disease

  0.19

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

Protein function (UniProt)