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
Heterozygous and homozygous null mice have CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for NOTCH1: BED file
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Selected References
- Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. https://doi.org/10.1111/j.1399-0004.2010.01435.x DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
- 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
- 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