List of diseases covered by
Noonan Spectrum Disorders/Rasopathies NGS panel

Gene Condition
ACTB Baraitser-Winter syndrome 1,
Dystonia, juvenile-onset
ACTG1 Baraitser-Winter syndrome 2;
Deafness, autosomal dominant 20/26
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
NF1 Neurofibromatosis-Noonan syndrome
NRAS Noonan syndrome 6
PPP1CB Noonan syndrome-like disorder
with loose anagen hair 2
PTPN11 Noonan syndrome 1; LEOPARD syndrome 1; Metachondromatosis
RAF1 Noonan syndrome 5; LEOPARD syndrome 2;
Cardiomyopathy, dilated, 1NN
RASA1 Capillary malformation-arteriovenous malformation 1
RIT1 Noonan syndrome 8
SHOC2 Noonan-like syndrome with loose anagen hair
SOS1 Noonan syndrome 4
SOS2 Noonan syndrome 9
SPRED1 Legius syndrome