FANCB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Childhood solid tumours

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Confirmed Fanconi anaemia or Bloom syndrome

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• COVID-19 research

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Cytopenias and congenital anaemias

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Haematological malignancies cancer susceptibility

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

• Fanconi anemia

  0.82

• VACTERL with hydrocephalus

  0.66

• VACTERL association, X-linked, with or without hydrocephalus

  0.57

• acute myeloid leukemia

  0.47

• myelodysplastic syndrome

  0.46

• Bone marrow hypocellularity

  0.46

• head and neck cancer

  0.37

• anorectal malformation

  0.37

• Fanconi anemia complementation group C

  0.37

• retinoschisis

  0.25

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

Protein function (UniProt)