COA5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorder with complex IV deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hypertrophic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neurodegenerative disease

  0.54

• fatal infantile encephalocardiomyopathy

  0.45

• leigh syndrome due to mitochondrial complex iv deficiency

  0.37

• Isolated cytochrome C oxidase deficiency

  0.37

• diverticular disease

  0.09

• hypothyroidism

  0.06

• epidermolysis bullosa simplex 2E, with migratory circinate erythema

  0.06

• Epidermolysis bullosa simplex with circinate migratory erythema

  0.06

• epidermolysis bullosa, junctional 3A, intermediate

  0.05

• epidermolysis bullosa, junctional 2B, severe

  0.05

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

Protein function (UniProt)