ClinGen Dosage Sensitivity Curation Page
SOS1
- Curation Status: Complete
- id: ISCA-30809
- Date last evaluated: 2012-03-30
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about SOS1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/6654
- OMIM: https://omim.org/entry/610733
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1124/?term=SOS1
- ClinGen Haploinsufficiency Score: 0
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 1.0
Select assembly:
(NC_000002.11)
(NC_000002.12)
- Haploinsufficiency score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
| PubMed ID | Description |
|---|---|
| 21387466 | Per this reference, all SOS1 mutations that have been described in association with Noonan syndrome have been missense mutations that are thought to result in gain of function. No nonsense or deletion mutations have been described at this time. |
Haploinsufficiency phenotype comments:
There has been a report of an insertion mutation that introduced a frameshift and created a premature stop codon in association with hereditary gingival fibromatosis (PMID: 11868160). Please note that the ISCA loss of function score has been assigned based on the Noonan syndrome phenotype.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity