COA7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex IV deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

  0.80

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• hereditary disease

  0.19

• cerebellar ataxia

  0.02

• malaria

  0.01

• Ataxia

  0.01

• hyperinsulinemic hypoglycemia, familial, 4

  0.01

• peripheral neuropathy

  0.01

• Brain atrophy

  0.01

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

Protein function (UniProt)