CPOX

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

• Hereditary neuropathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Non-acute porphyrias

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hereditary coproporphyria

  0.82

• harderoporphyria

  0.77

• neurodegenerative disease

  0.53

• CPOX-related hereditary coproporphyria

  0.52

• hereditary disease

  0.47

• Abnormality of the skeletal system

  0.37

• placental abruption

  0.24

• early-onset non-syndromic cataract

  0.12

• Total congenital cataract

  0.12

• Posterior polar cataract

  0.12

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

Protein function (UniProt)