TABLE 1.
RASopathy disorders and their known disease genes
RASopathy | Disease genes | Cases accounted for by known disease genes (%) |
---|---|---|
Noonan syndrome | PTPN11, SOS1, RAF1, KRAS, MRAS, NRAS, RRAS, BRAF, RIT1, SOS2, LZTR1, RASA2, RRAS, RRAS2 MAP2K1 | 85 |
NS with multiple lentigines | PTPN11, RAF1, BRAF | >90 |
NS-like with loose anagen hair | SHOC2, PPP1CB | 100 |
Costello syndrome | HRAS | 100 |
Cardiofaciocutaneous syndrome | BRAF, MAP2K1, MAP2K2, KRAS | 70 |
Noonan-like with juvenile myelomonocytic leukemia | CBL | 100 |
Citations for Table 1: Tidyman and Rauen (2016); Aoki et al. (2013); Yamamoto et al. (2015); Tajan, Paccoud, Branka, Edouard, and Yart (2018); Yu et al. (2019).
Bold indicates definitive or strong; non-bold indicates moderate or limited.