Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Gene: GPC3
GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 12 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and Green rating from Kate Tatton-Brown April 2017Created: 31 May 2019, 8:42 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: romoted from red to green due to expert review. It is a confirmed DD gene for Simpson-Golabi-Behmel syndrome, Type 1.Created: 29 Mar 2016, 1:25 p.m.
"Overlap between Simpson-Golabi-Behmel syndrome and BWS". Comment by Richard Scott (North Thames GMC/UCL), Oct. 9, 2015, 9:56 a.m.Created: 29 Mar 2016, 1:25 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Eligibility statement exclusion criteria
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Simpson-Golabi-Behmel syndrome type 1
- Simpson-Golabi-Behmel syndrome, type 1, 312870
- OMIM
- 300037
- Clinvar variants
- Variants in GPC3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- Embryonal tumour of possible germline origin
- Clefting
- DDG2P
- Limb disorders
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Fetal anomalies
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
History Filter Activity
31 May 2019, Gel status: 3
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: GPC3 were set to PMID: 8589713
29 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)GPC3 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Eligibility statement exclusion criteria,Expert Review Green,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen
29 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GPC3 was created by ellenmcdonagh