Lymphoedema_syndromic
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan syndrome 4 610733
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
- 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
29 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sue White (Victorian Clinical Genetics Services)gene: SOS1 was added gene: SOS1 was added to Lymphoedema_syndromic. Sources: Expert Review,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 19438935; 17143285; 17143282; 17586837 Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733 Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments