COX20

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  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

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• mitochondrial complex IV deficiency, nuclear type 11

  0.73

• Isolated cytochrome C oxidase deficiency

  0.68

• leigh syndrome due to mitochondrial complex iv deficiency

  0.60

• hereditary disease

  0.41

• mitochondrial disease

  0.40

• inborn mitochondrial metabolism disorder

  0.37

• Parkinson disease

  0.19

• trauma complication

  0.19

• cataract

  0.19

• alcohol drinking

  0.18

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

Protein function (UniProt)