Fetal hydrops

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on mode of pathogenicity: Activating mutations (see PMID: 26173643).
Created: 21 Dec 2016, 3:08 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Noonan syndrome 9, 616559
OMIM
601247
Clinvar variants
Variants in SOS2
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.

21 Dec 2016, Gel status: 4

Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

Mode of pathogenicity for SOS2 was changed to Other - please provide details in the comments

21 Dec 2016, Gel status: 4

Upload gene information

Rebecca Foulger (Genomics England curator)

SOS2 was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing

21 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SOS2 was created by rfoulger

21 Dec 2016, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

SOS2 was added to Fetal hydropspanel. Sources: Expert Review Green