ACO2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Optic neuropathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Retinal disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• infantile cerebellar-retinal degeneration

  0.81

• optic atrophy 9

  0.69

• Autosomal dominant optic atrophy, classic type

  0.62

• optic atrophy

  0.60

• mitochondrial disease

  0.50

• hereditary disease

  0.48

• inborn mitochondrial metabolism disorder

  0.46

• Retinal dystrophy

  0.40

• Leber hereditary optic neuropathy

  0.38

• hereditary optic atrophy

  0.38

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

Protein function (UniProt)

Diseases associated with ACO2

Curated MONDO disease pages that list ACO2 among their top associated genes.

• optic atrophyRare