Childhood solid tumours cancer susceptibility

Gene: GPC3

Amber List (moderate evidence)

GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 11 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Wilms tumor, somatic, 194070
  • Simpson-Golabi-Behmel syndrome, type 1, 312870
OMIM
300037
Clinvar variants
Variants in GPC3
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GPC3 was added gene: GPC3 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to Wilms tumor, somatic, 194070; Simpson-Golabi-Behmel syndrome, type 1, 312870