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

Published 13/06/2018

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

Updated Noonan Syndrome Panel

Published 20/01/2015

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.