Rasopathy
Gene: SOS2
Over 20 affected individuals reported. The overall phenotype fits well into the spectrum of Noonan syndrome and is most similar to the phenotype observed in patients with SOS1-related Noonan syndrome, with ectodermal anomalies as common features and short stature and learning disabilities as relatively infrequent findings compared to the average Noonan syndrome phenotype. The spectrum of heart defects in SOS2-related Noonan syndrome is consistent with the known spectrum of cardiac anomalies in RASopathies, but no specific heart defect was particularly predominating. Notably, lymphatic anomalies were extraordinarily frequent, affecting more than half of the patients, manifesting as increased NT and hydrops antenatally, and congenital chylothorax in the newborn period. Notably, lymphedema occurring after newborn period, such as lymphedema of lower limbs and genitalia, was found in almost half of the reported individuals.
The missense changes c.791C>A p.(Thr264Lys), c.800T>G p.(Met267Arg), c.800T>A p.(Met267Lys), and c.1127C>G p.(Thr376Ser) are recurrent.Created: 11 Sep 2020, 9:55 p.m. | Last Modified: 11 Sep 2020, 9:55 p.m.
Panel Version: 0.78
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 9, MIM# 616559
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene: SOS2 were set to 25795793; 32788663
Gene: sos2 has been classified as Green List (High Evidence).
Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559
Publications for gene: SOS2 were set to
Mode of pathogenicity for gene: SOS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: SOS2 was added gene: SOS2 was added to Rasopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOS2 was set to Unknown