RIT1 Ras like without CAAX 1

Gene info


RIBB, ROC1, MGC125864, MGC125865

Previous symbol


External ID

HGNC: 10023
Entrez Gene: 6016
Ensembl: ENSG00000143622
UCSC: uc001fmh.3
OMIM: 609591
UniProtKB: Q92963

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice; human mutated RNA injected into zebrafish leads to CHD


Variant info


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 RIT1: BED file

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Selected References

  1. Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., Ogata, T., Takada, F., Yano, M., Ando, T., Hoshika, T., Barnett, C., Ohashi, H., Kawame, H., Hasegawa, T., Okutani, T., Nagashima, T., Hasegawa, S., Funayama, R., … Matsubara, Y. (2013). Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome. The American Journal of Human Genetics, 93(1), 173–180. https://doi.org/10.1016/j.ajhg.2013.05.021 DOI:10.1016/j.ajhg.2013.05.021 PMID:23791108
  2. Bertola, D. R., Yamamoto, G. L., Almeida, T. F., Buscarilli, M., Jorge, A. A. L., Malaquias, A. C., Kim, C. A., Takahashi, V. N. V., Passos-Bueno, M. R., & Pereira, A. C. (2014). Further evidence of the importance ofRIT1in Noonan syndrome. American Journal of Medical Genetics Part A, 164(11), 2952–2957. Portico. https://doi.org/10.1002/ajmg.a.36722 DOI:10.1002/ajmg.a.36722
  3. Milosavljević, D., Overwater, E., Tamminga, S., de Boer, K., Elting, M. W., van Hoorn, M. E., Rinne, T., & Houweling, A. C. (2016). Two cases ofRIT1associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature. American Journal of Medical Genetics Part A, 170(7), 1874–1880. Portico. https://doi.org/10.1002/ajmg.a.37657 DOI:10.1002/ajmg.a.37657 PMID:27109146