HFE

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Dilated Cardiomyopathy and conduction defects

  BIALLELIC, autosomal or pseudoautosomal

• Hypogonadotropic hypogonadism

  BIALLELIC, autosomal or pseudoautosomal

• Iron metabolism disorders - NOT common HFE mutations

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hemochromatosis type 1

  0.83

• hereditary hemochromatosis

  0.66

• familial porphyria cutanea tarda

  0.63

• variegate porphyria

  0.60

• Alzheimer disease type 1

  0.58

• hemochromatosis

  0.57

• cardiomyopathy

  0.43

• cystic fibrosis

  0.42

• hereditary disease

  0.41

• Alzheimer disease

  0.38

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

Protein function (UniProt)