Childhood solid tumours
Gene: GPC3EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 11 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome, type 1, 312870; Wilms tumor, somatic, 194070
Richard Scott (Genomics England Curator)
Comment on list classification: See reviewCreated: 7 Mar 2016, 11:32 p.m.
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
312870
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Wilms tumor, somatic, 194070
- Simpson-Golabi-Behmel syndrome, type 1, 312870
- Wilms tumor, somatic, 194070
- 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
- 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
Added New Source, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to GPC3. Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870; Wilms tumor, somatic, 194070 for gene: GPC3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to GPC3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GPC3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)GPC3 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen