GPC3 glypican 3
Gene info
Synonyms
OCI-5, SGBS, SGBS1, SGB, DGSX
Previous symbol
SDYS
External ID
HGNC: 4451
Entrez Gene: 2719
Ensembl: ENSG00000147257
UCSC: uc004exe.4
OMIM:
300037
UniProtKB:
P51654
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
- Patent foramen ovale
- Dysplastic tricuspid valve
- Dysplastic pulmonary valve
- Hypoplastic left pulmonary artery
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Male mice with null allele have CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for GPC3: BED file
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Selected References
- COTTEREAU, E., MORTEMOUSQUE, I., MOIZARD, M.-P., BÜRGLEN, L., LACOMBE, D., GILBERT-DUSSARDIER, B., SIGAUDY, S., BOUTE, O., DAVID, A., FAIVRE, L., AMIEL, J., ROBERTSON, R., VIANA RAMOS, F., BIETH, E., ODENT, S., DEMEER, B., MATHIEU, M., GAILLARD, D., VAN MALDERGEM, L., … TOUTAIN, A. (2013). Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163(2), 92–105. Portico. https://doi.org/10.1002/ajmg.c.31360 DOI:10.1002/ajmg.c.31360 PMID:23606591