PC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• pyruvate carboxylase deficiency disease

  0.82

• Congenital lactic acidosis

  0.42

• pyruvate carboxylase deficiency, infantile form

  0.37

• pyruvate carboxylase deficiency, benign type

  0.37

• pyruvate carboxylase deficiency, severe neonatal type

  0.37

• Global developmental delay

  0.34

• ocular hypotension

  0.27

• thrombophilia due to protein C deficiency, autosomal recessive

  0.27

• thrombophilia due to protein C deficiency, autosomal dominant

  0.27

• exostosis

  0.24

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

Protein function (UniProt)