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. Author manuscript; available in PMC: 2021 Mar 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Feb 5;184(1):73–80. doi: 10.1002/ajmg.c.31765

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

Bold indicates definitive or strong; non-bold indicates moderate or limited.