List of diseases covered by Noonan Syndrome NGS panel

List of diseases covered by
Noonan Syndrome NGS panel

Gene Condition
BRAF Noonan syndrome 7; LEOPARD syndrome 3;
Cardiofaciocutaneous syndrome
CBL Noonan syndrome-like disorder with or without juvenile
myelomonocytic leukemia
HRAS Costello syndrome
KAT6B Genitopatellar syndrome; SBBYSS syndrome
KRAS Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
LZTR1 Noonan syndrome 10
MAP2K1 Cardiofaciocutaneous syndrome 3
MAP2K2 Cardiofaciocutaneous syndrome 4
NRAS Noonan syndrome 6
PTPN11 Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis
RAF1 Noonan syndrome 5; LEOPARD syndrome 2;
Cardiomyopathy, dilated, 1NN
SHOC2 Noonan-like syndrome with loose anagen hair
SOS1 Noonan syndrome 4
SPRED1 Legius syndrome

Updated Noonan Syndrome Panel

We have added six new genes (CBL, HRAS, KAT6B, MAP2K2, SHOC2, SPRED1) to the Noonan syndrome NGS panel. Now the panel includes 13 genes associated with Noonan syndrome and Noonan spectrum disorders.