RIT1 Ras like without CAAX 1

Gene info

Disease info

Animal model

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

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 of RIT1 in 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 PMID:25124994
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 of RIT1 associated 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