TFR2

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 3

  0.82

• hereditary hemochromatosis

  0.65

• mucopolysaccharidosis type 2

  0.49

• hemochromatosis type 1

  0.38

• hereditary disease

  0.20

• primary familial polycythemia due to EPO receptor mutation

  0.08

• myelodysplastic syndrome

  0.08

• autosomal dominant secondary polycythemia

  0.08

• gastric cancer

  0.08

• metabolic dysfunction-associated steatotic liver disease

  0.08

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

Protein function (UniProt)