RASopathies
Gene: SOS2
Comment on list classification: Discussed internally and recommended by expert reviewerCreated: 21 Dec 2016, 2:52 p.m.
Reasonable number of reports in the literature in which mutations segregate with disease. At least one mutation corresponds with mutation found previously in SOS1. Harmless polymorphisms also reported in the gene so caution needed to avoid over interpreting variants in this geneCreated: 21 Dec 2016, 2:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Noonan syndrome 9 616559
Publications
Comment on mode of pathogenicity: Activating mutations (see PMID: 26173643).Created: 21 Dec 2016, 1:56 p.m.
Gene suggested to be added to this panel by a reviewer.Created: 21 Dec 2016, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 9
Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 to Noonan syndrome 9 616559
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for SOS2 was changed to Other - please provide details in the comments
Publications for SOS2 were set to 25795793;26173643
Publications for SOS2 were set to 25795793
SOS2 was created by ellenmcdonagh
SOS2 was added to RASopathiespanel. Sources: Expert Review