HAMP

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

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• hemochromatosis type 2B

  0.79

• hemochromatosis type 2

  0.71

• hereditary hemochromatosis

  0.45

• neurodegenerative disease

  0.32

• hereditary disease

  0.18

• salivary gland disorder

  0.17

• hepatocellular carcinoma

  0.13

• anemia

  0.13

• anemia (phenotype)

  0.13

• metabolic dysfunction-associated steatotic liver disease

  0.12

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

Protein function (UniProt)