PPOX

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cutaneous photosensitivity with a likely genetic cause

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Mitochondrial disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Non-acute porphyrias

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• variegate porphyria

  0.85

• variegate porphyria, childhood-onset

  0.81

• Porphyria variegata

  0.72

• neurodegenerative disease

  0.52

• Abnormal blistering of the skin

  0.42

• hereditary disease

  0.34

• Abnormal urinary color

  0.34

• Constipation

  0.34

• migraine disorder

  0.34

• Abdominal colic

  0.33

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

Protein function (UniProt)