IUGR and IGF abnormalities
Gene: SOS1EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 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
-
- Monogenic short stature
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours
- Osteogenesis imperfecta
- Intellectual disability
- Embryonal tumour of possible germline origin
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Primary lymphoedema
- Hereditary neuropathy or pain disorder
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for SOS1 were set to Rasopathy
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for SOS1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()SOS1 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory