This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: SOS1
SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Noonan syndrome 4, 610733
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Fetal anomalies
- Fetal hydrops
- Embryonal tumour of possible germline origin
- Paediatric or syndromic cardiomyopathy
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- RASopathies
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Intellectual disability
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
11 May 2017, Gel status: 4
Set publications
Rebecca Foulger (Genomics England curator)Publications for SOS1 were set to 26903185
11 May 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for SOS1 were set to Noonan syndrome 4, 610733
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SOS1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SOS1 was created by ellenmcdonagh