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
-
- 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
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