Osteogenesis imperfecta
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
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Tags
- OMIM
- 182530
- Clinvar variants
- Variants in SOS1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Pigmentary skin disorders
- Fetal hydrops
- Embryonal tumour of possible germline origin
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Childhood solid tumours
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SOS1.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SOS1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory