Childhood solid tumours
Gene: SOS1EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel and that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Predisposition to cancer.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Publications
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert List
- Phenotypes
-
- Noonan syndrome 4 610733
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Hypertrophic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Fetal anomalies
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Fetal hydrops
- Hereditary neuropathy
- DDG2P
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
History Filter Activity
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SOS1. Source NHS GMS was added to SOS1. Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome 4 610733 for gene: SOS1 Publications for gene SOS1 were changed from to 23875798 Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SOS1 was added gene: SOS1 was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: SOS1 was set to