Limb disorders
Gene: GPC3EnsemblGeneIds (GRCh38): ENSG00000147257
EnsemblGeneIds (GRCh37): ENSG00000147257
OMIM: 300037, Gene2Phenotype
GPC3 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
More than 6 families reported for this phenotype and variants in this gene. The syndrome can include the following phenotypes: Short broad hands, Postaxial polydactyly, Syndactyly 2nd-3rd fingers, Broad thumbs, Distal phalangeal hypoplasia, Two carpal ossification centers present at birth, Short broad feet, Syndactyly 2nd-3rd toes, Broad toes, ClubfootCreated: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Simpson-Golabi-Behmel syndrome, type 1 312870
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Simpson-Golabi-Behmel syndrome, type 1 312870
- Polydactyly
- OMIM
- 300037
- Clinvar variants
- Variants in GPC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Limb disorders
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Congenital hyperinsulinism
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Fetal anomalies
- Clefting
- CAKUT
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: More than 6 families reported
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gpc3 has been classified as Green List (High Evidence).
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to GPC3. Mode of inheritance for gene GPC3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Simpson-Golabi-Behmel syndrome, type 1 312870 for gene: GPC3 Publications for gene GPC3 were changed from to 10814714 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Ellen McDonagh (Genomics England Curator)GPC3 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)GPC3 was created by Ellen McDonagh