CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

Eur J Hum Genet. 2019 Apr;27(4):663-668. doi: 10.1038/s41431-019-0339-z. Epub 2019 Jan 25.

Abstract

Name of the disease (synonyms): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870.

Name of the analysed genes or dna/chromosome segments: GPC3. OMIM# OF THE GENE(S): 300037. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GPC3 gene(s) in ⊠ diagnostic, ☐ predictive and ⊠ prenatal settings and for ⊠ risk assessment in relatives.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / physiopathology
  • Female
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Gigantism / diagnosis
  • Gigantism / genetics*
  • Gigantism / physiopathology
  • Glypicans / genetics*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / physiopathology
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Male
  • Mutation / genetics
  • Phenotype

Substances

  • GPC3 protein, human
  • Glypicans

Supplementary concepts

  • Simpson-Golabi-Behmel syndrome