COX6A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• 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

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• Charcot-Marie-Tooth disease recessive intermediate D

  0.72

• autosomal recessive intermediate Charcot-Marie-Tooth disease

  0.57

• neurodegenerative disease

  0.46

• mitochondrial disease

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• peripheral neuropathy

  0.26

• genetic developmental and epileptic encephalopathy

  0.08

• developmental and/or epileptic encephalopathy with spike-wave activation in sleep

  0.08

• amyotrophic lateral sclerosis

  0.08

• undetermined early-onset epileptic encephalopathy

  0.07

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

Protein function (UniProt)