|
Noonan |
LEOPARD |
Costello |
Cardiofaciocutaneous |
PTPN11 |
50% |
90% |
N/A |
N/A |
RAF1 |
3-17% |
<5% |
N/A |
N/A |
SOS1 |
10-20% |
N/A |
N/A |
N/A |
KRAS |
<5% |
N/A |
N/A |
rare |
NRAS |
<1% |
N/A |
N/A |
N/A |
BRAF |
<2% |
<5% |
N/A |
75% |
MAP2K1 or
MAP2K2 |
<2% |
N/A |
N/A |
25% |
HRAS |
N/A |
N/A |
80-90% |
N/A |
SHOC2 |
<1%a |
N/A |
N/A |
N/A |
a5% in cohort negative for other genes known to cause Noonan syndrome
Compiled from Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews
[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2007 [accessed
Nov 30, 2011] |