NOTCH2 notch receptor 2

Gene info

Synonyms

None

Previous symbol

None

External ID

HGNC: 7882
Entrez Gene: 4853
Ensembl: ENSG00000134250
UCSC: uc001eik.4
OMIM: 600275
UniProtKB: Q04721

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Persistent ductus arteriosus
  • Pulmonary stenosis
  • Tetralogy of fallot

Extra Cardiac Phenotype

Cholestasis, bile duct paucity, Vesico-ureteric reflux, Renal failure, Posterior embryotoxon, Butterfly vertebrae

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

Mouse homozygous for a hypomorphic allele 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 NOTCH2: BED file

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Selected References

  1. McDaniell, R., Warthen, D. M., Sanchez-Lara, P. A., Pai, A., Krantz, I. D., Piccoli, D. A., & Spinner, N. B. (2006). NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway. The American Journal of Human Genetics, 79(1), 169–173. DOI:10.1086/505332 PMID:16773578
  2. Gray, M. J., Kim, C. A., Bertola, D. R., Arantes, P. R., Stewart, H., Simpson, M. A., … Robertson, S. P. (2011). Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome. European Journal of Human Genetics, 20(1), 122–124. DOI:10.1038/ejhg.2011.125 PMID:21712856
  3. Kamath, B. M., Bauer, R. C., Loomes, K. M., Chao, G., Gerfen, J., Hutchinson, A., … Spinner, N. B. (2011). NOTCH2mutations in Alagille syndrome. Journal of Medical Genetics, 49(2), 138–144. DOI:10.1136/jmedgenet-2011-100544 PMID:22209762