OPA3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• 3-methylglutaconic aciduria type 3

  0.81

• optic atrophy 3

  0.81

• Autosomal dominant optic atrophy and cataract

  0.68

• neurodegenerative disease

  0.52

• autosomal dominant optic atrophy

  0.38

• Cognitive regression

  0.37

• achromatopsia

  0.27

• hereditary disease

  0.19

• alcohol drinking

  0.12

• Abnormal pupillary function

  0.12

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

Protein function (UniProt)

Diseases associated with OPA3

Curated MONDO disease pages that list OPA3 among their top associated genes.

• achromatopsiaRare