PDHX

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 disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• pyruvate dehydrogenase E3-binding protein deficiency

  0.79

• hereditary disease

  0.45

• mitochondrial disease

  0.44

• Leigh syndrome

  0.37

• inborn mitochondrial metabolism disorder

  0.37

• obsessive-compulsive disorder

  0.29

• ovarian dysfunction

  0.29

• vascular disorder

  0.29

• type 2 diabetes mellitus

  0.28

• pyruvate dehydrogenase E1-alpha deficiency

  0.26

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

Protein function (UniProt)