IUGR and IGF abnormalities
Gene: SOS1
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 17 panels
2 reviews
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Rasopathy
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- Complete
- Panels with this gene
-
- Primary lymphoedema
- Intellectual disability
- Monogenic short stature
- Fetal hydrops
- Childhood solid tumours
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
25 Apr 2016, Gel status: 4
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for SOS1 were set to Rasopathy
25 Apr 2016, Gel status: 4
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for SOS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
25 Apr 2016, Gel status: 4
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SOS1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory