NF1 neurofibromin 1

Gene info

Synonyms

neurofibromatosis|von Recklinghausen disease|Watson disease

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

MGI: Homozygous knockout mouse has CHD

MGI ID

97306

Variant info

Clinvar

NF1

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

Genome browser powered by igv.js

Selected References

  1. 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
  2. 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 theNF1gene are associated with Neurofibromatosis–Noonan syndrome (NFNS). American Journal of Medical Genetics Part A, 119A(1), 1–8. Portico. https://doi.org/10.1002/ajmg.a.20023 DOI:10.1002/ajmg.a.20023 PMID:12707950
  3. 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 in NF1. Clinical Genetics, 76(6), 524–534. Portico. https://doi.org/10.1111/j.1399-0004.2009.01233.x DOI:10.1111/j.1399-0004.2009.01233.x