SCO1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  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

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial complex IV deficiency, nuclear type 4

  0.78

• leigh syndrome due to mitochondrial complex iv deficiency

  0.58

• Isolated cytochrome C oxidase deficiency

  0.54

• neurodegenerative disease

  0.48

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• fatal infantile encephalocardiomyopathy

  0.37

• hereditary disease

  0.19

• Leigh syndrome

  0.19

• pulmonary arterial hypertension

  0.04

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

Protein function (UniProt)