NF1 neurofibromin 1
Gene info
Synonyms
None
Previous symbol
None
External ID
HGNC: 7765
Entrez Gene: 4763
Ensembl: ENSG00000196712
UCSC: uc002hgh.3
OMIM:
613113
UniProtKB:
P21359
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Pulmonic stenosis
- Coarctation of the aorta
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse 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.
- 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 NF1: BED file
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Selected References
- De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., & Dallapiccola, B. (2005). NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome. The American Journal of Human Genetics, 77(6), 1092–1101. https://doi.org/10.1086/498454 DOI:10.1086/498454 PMID:16380919
- Baralle, D., Mattocks, C., Kalidas, K., Elmslie, F., Whittaker, J., Lees, M., Ragge, N., Patton, M. A., Winter, R. M., & ffrench-Constant, C. (2003). Different mutations in theNF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). American Journal of Medical Genetics, 119A(1), 1–8. https://doi.org/10.1002/ajmg.a.20023 DOI:10.1002/ajmg.a.20023 PMID:12707950
- Nyström, A., Ekvall, S., Allanson, J., Edeby, C., Elinder, M., Holmström, G., Bondeson, M., & Annerén, G. (2009). Noonan syndrome and neurofibromatosis type I in a family with a novel mutation inNF1. Clinical Genetics, 76(6), 524–534. https://doi.org/10.1111/j.1399-0004.2009.01233.x DOI:10.1111/j.1399-0004.2009.01233.x PMID:19845691