RASopathies
Gene: SOS1EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Helen Savage (Congenica Ltd)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Noonan syndrome 4 610733
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- Complete
- 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
- Panels with this gene
-
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- DDG2P
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Embryonal tumour of possible germline origin
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SOS1 were changed from Noonan syndrome; Noonan syndrome 4 to Noonan syndrome 4 610733
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SOS1 were set to PMID: 19438935; 17143285; 17143282; 17586837
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SOS1 were set to PMID: 19438935; 17143285; 17143282; 17586837
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SOS1 were set to Noonan syndrome; Noonan syndrome 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SOS1 were set to Noonan syndrome
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SOS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Upload gene information
Ellen McDonagh (Genomics England Curator)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
clearsources
Ellen McDonagh (Genomics England Curator)SOS1All sources for gene: SOS1 were removed
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Upload gene information
Ellen McDonagh (Genomics England Curator)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
clearsources
Ellen McDonagh (Genomics England Curator)SOS1All sources for gene: SOS1 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)SOS1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SOS1 was added to RASopathiespanel. Source: Emory Genetics Laboratory SOS1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)SOS1 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)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
Created
Ellen McDonagh (Genomics England Curator)SOS1 was created by ellenmcdonagh