FECH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cutaneous photosensitivity with a likely genetic cause

  BIALLELIC, autosomal or pseudoautosomal

• Erythropoietic protoporphyria, mild variant

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Non-acute porphyrias

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Vascular skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Iron metabolism disorders - NOT common HFE mutations

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• autosomal erythropoietic protoporphyria

  0.85

• neurodegenerative disease

  0.55

• erythropoietic protoporphyria

  0.38

• Parkinson disease

  0.34

• Alzheimer disease

  0.34

• multiple sclerosis

  0.33

• lysosomal storage disease

  0.33

• lobe attachment

  0.31

• alcohol drinking

  0.27

• Shock

  0.26

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

Protein function (UniProt)