GLI3 GLI family zinc finger 3

Gene info

Synonyms

PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV

Previous symbol

GCPS, PHS

External ID

HGNC: 4319
Entrez Gene: 2737
Ensembl: ENSG00000106571
UCSC: uc011kbh.3
OMIM: 165240
UniProtKB: P10071

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Pulmonic stenosis
  • Double outlet right ventricle

Extra Cardiac Phenotype

Facial dysmorphism, Macrocephaly, Lung dysplasia, digit deformities, Failure to thrive, GH deficiency, Hypothalamic hamartoma

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

GLI3 +/- mutants have PTA, mouse with gain of function GLI3 mutations have VSD

MGI ID

Variant info

Clinvar

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 GLI3: BED file

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Selected References

  1. Hurst, J. A., Jenkins, D., Vasudevan, P. C., Kirchhoff, M., Skovby, F., Rieubland, C., … Wilkie, A. O. (2011). Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. European Journal of Human Genetics, 19(7), 757–762. DOI:10.1038/ejhg.2011.13 PMID:21326280
  2. Démurger, F., Ichkou, A., Mougou-Zerelli, S., Le Merrer, M., Goudefroye, G., Delezoide, A.-L., … Fradin, M. (2014). New insights into genotype–phenotype correlation for GLI3 mutations. European Journal of Human Genetics, 23(1), 92–102. DOI:10.1038/ejhg.2014.62 PMID:24736735