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

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

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.