COQ4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

  0.84

• spastic ataxia 10, autosomal recessive

  0.75

• neurodegenerative disease

  0.52

• spastic ataxia

  0.48

• hereditary disease

  0.48

• coenzyme Q10 deficiency

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• rhabdomyolysis

  0.37

• developmental disability

  0.33

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

Protein function (UniProt)