JAG1 jagged canonical Notch ligand 1

Gene info

Synonyms

AHD, AWS, HJ1, CD339

Previous symbol

AGS, JAGL1

External ID

HGNC: 6188
Entrez Gene: 182
Ensembl: ENSG00000101384
UCSC: uc002wnw.3
OMIM: 601920
UniProtKB: P78504

Disease info

CHD Phenotype

  • Pulmonary stenosis
  • Tetralogy of fallot
  • Ventricular septal defect
  • Aortic dextroposition

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mouse with conditional endothelial-specific deletion has CHD

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 JAG1: BED file

Genome browser powered by igv.js

Selected References

  1. Krantz, I. D., Smith, R., Colliton, R. P., Tinkel, H., Zackai, E. H., Piccoli, D. A., … Spinner, N. B. (1999). Jagged1 mutations in patients ascertained with isolated congenital heart defects. American Journal of Medical Genetics, 84(1), 56–60. DOI:10.1002/(SICI)1096-8628(19990507)84:1<56::AID-AJMG11>3.0.CO;2-W PMID:10213047
  2. Eldadah, Z. A. (2001). Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Human Molecular Genetics, 10(2), 163–169. DOI:10.1093/hmg/10.2.163 PMID:11152664