RASopathies
Gene: SOS1Comment on mode of pathogenicity: G2P mutation consequence is activating. Comments from Reviewer:
Gain of function mutations in SOS1 cause Noonan syndrome. This disorder shares phenotypes with Legius syndrome, however mutations in SOS1 have not been described in patients with Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:52 a.m. Gain of function mutations in SOS1 cause ~10% of Noonan syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 3:58 p.m.Created: 5 Feb 2016, 12:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.Created: 5 Feb 2016, 8:25 a.m.
Gain of function mutations.Created: 1 Feb 2016, 10:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: SOS1 were changed from Noonan syndrome; Noonan syndrome 4 to Noonan syndrome 4 610733
Publications for gene: SOS1 were set to PMID: 19438935; 17143285; 17143282; 17586837
This gene has been classified as Green List (High Evidence).
Publications for SOS1 were set to PMID: 19438935; 17143285; 17143282; 17586837
Phenotypes for SOS1 were set to Noonan syndrome; Noonan syndrome 4
Phenotypes for SOS1 were set to Noonan syndrome
Mode of pathogenicity for SOS1 was changed 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 SOS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene SOS1 were set to Noonan syndrome;Noonan syndrome 4, ;Noonan syndrome 4; Noonan Spectrum Disorders;Noonan Spectrum Disorders;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome
SOS1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN
SOS1All sources for gene: SOS1 were removed
Phenotypes for gene SOS1 were set to Noonan syndrome;Noonan syndrome 4, ;Noonan syndrome 4; Noonan Spectrum Disorders;Noonan Spectrum Disorders;Noonan syndrome plus other features;Legius syndrome;Costello syndrome;Cardio-facio-cutaneous syndrome;LEOPARD syndrome
SOS1 was added to RASopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN
SOS1All sources for gene: SOS1 were removed
SOS1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SOS1 was added to RASopathiespanel. Source: Emory Genetics Laboratory SOS1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SOS1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SOS1 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
SOS1 was created by ellenmcdonagh