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
A2ML1 Otitis media, susceptibility to
BRAF Noonan syndrome 7; LEOPARD syndrome 3;
Cardiofaciocutaneous syndrome
CBL Noonan syndrome-like disorder with or without juvenile
myelomonocytic leukemia
CHD7 CHARGE syndrome;
Hypogonadotropic hypogonadism 5 with or without anosmia
DHCR7 Smith-Lemli-Opitz syndrome
ELN Supravalvar aortic stenosis; Cutis laxa, autosomal dominant
EPHB4 Capillary malformation-arteriovenous malformation 2;
Lymphatic malformation 7
FGD1 Aarskog-Scott syndrome
HRAS Costello syndrome
JAG1 Alagille syndrome 1; Tetralogy of Fallot;
Deafness, congenital heart defects, and posterior embryotoxon
KAT6B Genitopatellar syndrome; SBBYSS syndrome
KDM6A Kabuki syndrome 2
KMT2D Kabuki syndrome 1
KRAS Noonan syndrome 3; Cardiofaciocutaneous syndrome 2
LZTR1 Noonan syndrome 10
MAP2K1 Cardiofaciocutaneous syndrome 3
MAP2K2 Cardiofaciocutaneous syndrome 4
MRAS Noonan syndrome 11
NCF1 Chronic granulomatous disease 1, autosomal recessive
NF1 Neurofibromatosis-Noonan syndrome
NOTCH2 Hajdu-Cheney syndrome; Alagille syndrome 2
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
RAI1 Smith-Magenis syndrome
RASA1 Capillary malformation-arteriovenous malformation 1
RASA2 Noonan syndrome-like phenotype
RIT1 Noonan syndrome 8
RRAS Noonan syndrome-like phenotype; Noonan syndrome 12
SHOC2 Noonan-like syndrome with loose anagen hair
SOS1 Noonan syndrome 4
SOS2 Noonan syndrome 9
SPRED1 Legius syndrome
TBX1 Conotruncal anomaly face syndrome; DiGeorge syndrome;
Tetralogy of Fallot; Velocardiofacial syndrome