Childhood solid tumours cancer susceptibility
Gene: GPC3
GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 11 panels
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
-
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Clefting
- Limb disorders
- Fetal anomalies
- DDG2P
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
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