Pigmentary skin disorders

Gene: SOS2

Green List (high evidence)

SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000100485
EnsemblGeneIds (GRCh37): ENSG00000100485
OMIM: 601247, Gene2Phenotype
SOS2 is in 12 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

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