Pigmentary skin disorders
Gene: SOS2
SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000100485
EnsemblGeneIds (GRCh37): ENSG00000100485
OMIM: 601247, Gene2Phenotype
SOS2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000100485
EnsemblGeneIds (GRCh37): ENSG00000100485
OMIM: 601247, Gene2Phenotype
SOS2 is in 11 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NOONAN SYNDROME 9; NS9
Publications
Catherine Snow (Genomics England)
Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green gene.Created: 17 Sep 2019, 5:09 p.m. | Last Modified: 17 Sep 2019, 5:09 p.m.
Panel Version: 0.13
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review
- Expert Review Green
- Phenotypes
-
- NS9
- NOONAN SYNDROME 9
- Noonan syndrome 9 616559
- OMIM
- 601247
- Clinvar variants
- Variants in SOS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes NS9; NOONAN SYNDROME 9 for gene: SOS2 Publications for gene SOS2 were changed from 25795793; 26173643 to 25795793
3 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Catherine Snow (Genomics England)gene: SOS2 was added gene: SOS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 25795793; 26173643 Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559