GPC3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

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

• CAKUT

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

• Childhood solid tumours

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

• Clefting

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

• Congenital hyperinsulinism

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

• DDG2P

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

• Embryonal tumour of possible germline origin

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

• Fetal anomalies

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

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Disease associations (Open Targets)

• Simpson-Golabi-Behmel syndrome type 1

  0.77

• Simpson-Golabi-Behmel syndrome

  0.74

• Wilms tumor 1

  0.72

• COVID-19

  0.54

• hereditary disease

  0.50

• dengue disease

  0.46

• thyroid gland papillary carcinoma

  0.38

• pancreatic ductal adenocarcinoma

  0.37

• pancreatic neuroendocrine tumor

  0.37

• exocrine pancreatic carcinoma

  0.37

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

Protein function (UniProt)