Rasopathy
Gene: SOS1EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 50 individuals reported with SOS1 variants and a Noonan syndrome phenotype. Pulmonic stenosis tends to be more frequent compared to those with PTPN11 mutations, and atrial septal defect is relatively rare. Ectodermal features including keratosis pilaris and curly hair are significantly more prevalent compared with the general Noonan population. Height below the third percentile and learning disability are observed in fewer individuals compared with Noonan syndrome in general. In contrast, macrocephaly is overrepresented among those with SOS1 mutations.Created: 11 Sep 2020, 9:38 p.m. | Last Modified: 11 Sep 2020, 9:38 p.m.
Panel Version: 0.75
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome 4, MIM# 610733
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Noonan syndrome 4, MIM# 610733
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Callosome
- Cancer Predisposition_Paediatric
- Growth failure
- Vascular Malformations_Germline
- Rasopathy
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Congenital Heart Defect
- Cardiomyopathy_Paediatric
- Mendeliome
- Lymphoedema_syndromic
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sos1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4, MIM# 610733
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SOS1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOS1 was added gene: SOS1 was added to Rasopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOS1 was set to Unknown