NOTCH1 notch receptor 1

Gene info

Synonyms

None

Previous symbol

TAN1

External ID

HGNC: 7881
Entrez Gene: 4851
Ensembl: ENSG00000148400
UCSC: uc004chz.4
OMIM: 190198
UniProtKB: P46531

Disease info

Disease

CHD Phenotype

  • Ventricular septal defect
  • Bicuspid aortic valve
  • Aortic stenosis
  • Coarctation of the aorta
  • Tetralogy of fallot
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

None

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

MGI: Heterozygous and homozygous knockout mice have CHD

MGI ID

97363

Variant info

Clinvar

NOTCH1

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

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Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non‐syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. Portico. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. McBride, K. L., Riley, M. F., Zender, G. A., Fitzgerald-Butt, S. M., Towbin, J. A., Belmont, J. W., & Cole, S. E. (2008). NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Human Molecular Genetics, 17(18), 2886–2893. https://doi.org/10.1093/hmg/ddn187 DOI:10.1093/hmg/ddn187 PMID:18593716
  3. Garg, V., Muth, A. N., Ransom, J. F., Schluterman, M. K., Barnes, R., King, I. N., Grossfeld, P. D., & Srivastava, D. (2005). Mutations in NOTCH1 cause aortic valve disease. Nature, 437(7056), 270–274. https://doi.org/10.1038/nature03940 DOI:10.1038/nature03940 PMID:16025100