Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: GPC3

Green List (high evidence)

GPC3 (glypican 3)
EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017
Created: 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

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