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

MGI: Male mice with null allele have CHD

MGI ID

104903

Variant info

Clinvar

GPC3

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for GPC3: BED file

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Selected References

  1. 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