Embryonal tumour of possible germline origin
Gene: SOS1
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
SOS1 has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #610733) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 4, MONDO:0012547; Noonan syndrome 4, OMIM:610733
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Noonan syndrome 4, OMIM:610733
- Noonan syndrome 4, MONDO:0012547
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Fetal hydrops
- Fetal anomalies
- Childhood solid tumours
- Monogenic short stature
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- DDG2P
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SOS1 was added gene: SOS1 was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS1 were set to Noonan syndrome 4, OMIM:610733; Noonan syndrome 4, MONDO:0012547