PET100

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  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

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Disease associations (Open Targets)

• leigh syndrome due to mitochondrial complex iv deficiency

  0.73

• mitochondrial complex IV deficiency, nuclear type 12

  0.71

• Isolated cytochrome C oxidase deficiency

  0.69

• Leigh syndrome

  0.55

• Seizure

  0.37

• Intellectual disability

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• neurodegenerative disease

  0.35

• Congenital lactic acidosis

  0.33

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

Protein function (UniProt)