COQ6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• familial steroid-resistant nephrotic syndrome with sensorineural deafness

  0.79

• neurodegenerative disease

  0.56

• steroid-resistant nephrotic syndrome

  0.50

• coenzyme Q10 deficiency

  0.37

• primary coenzyme Q10 deficiency 8

  0.37

• lysosomal storage disease

  0.25

• Alzheimer disease

  0.21

• hereditary disease

  0.19

• posterior polymorphous corneal dystrophy

  0.07

• Fuchs endothelial corneal dystrophy

  0.07

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

Protein function (UniProt)