This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Simpson-Golabi-Behmel Syndrome
- Wilms tumor
- Hepatoblastoma
- hepatocellular carcinoma
- Neuroblastoma
- Gonadoblastoma
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 300037
- Clinvar variants
- Variants in GPC3
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Clefting
- Limb disorders
- DDG2P
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Fetal anomalies
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GPC3 was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GPC3 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GPC3 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)