SLC40A1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hypogonadotropic hypogonadism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Iron metabolism disorders - NOT common HFE mutations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Likely inborn error of metabolism

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Undiagnosed metabolic disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

• Hypogonadotropic hypogonadism (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• hemochromatosis type 4

  0.84

• infantile epileptic encephalopathy

  0.46

• restless legs syndrome

  0.39

• hereditary hemochromatosis

  0.38

• aceruloplasminemia

  0.38

• neurodegenerative disease

  0.35

• hereditary disease

  0.19

• hemochromatosis type 1

  0.13

• hepatocellular carcinoma

  0.10

• Alzheimer disease

  0.10

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

Protein function (UniProt)