Vascular Malformations_Somatic
Gene: SOS1
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Somatic variants in Rasopathy genes have been associated with vascular malformations.Created: 2 Jun 2020, 8:46 a.m. | Last Modified: 2 Jun 2020, 8:46 a.m.
Panel Version: 0.89
Bryony Thompson (Royal Melbourne Hospital)
Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome
Sources: Expert listCreated: 21 Jan 2020, 2:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 4 610733
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Expert list
- Phenotypes
-
- Noonan syndrome 4 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
1 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sos1 has been classified as Amber List (Moderate Evidence).
1 Jul 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sos1 has been classified as Amber List (Moderate Evidence).
1 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOS1 was added gene: SOS1 was added to Vascular Malformations_Somatic. Sources: Expert list,Expert Review Green Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS1 were set to 29907801 Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733