COQ9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

+5 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

  0.75

• Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease

  0.71

• coenzyme Q10 deficiency

  0.64

• hereditary disease

  0.41

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• coenzyme Q10 deficiency, primary, 1

  0.37

• Leigh syndrome

  0.13

• Hereditary late-onset Parkinson disease

  0.05

• Classical progressive supranuclear palsy

  0.04

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

Protein function (UniProt)