RASopathies
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

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Discussed internally and recommended by expert reviewer
Created: 21 Dec 2016, 2:52 p.m.

Reasonable number of reports in the literature in which mutations segregate with disease. At least one mutation corresponds with mutation found previously in SOS1. Harmless polymorphisms also reported in the gene so caution needed to avoid over interpreting variants in this gene
Created: 21 Dec 2016, 2:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Noonan syndrome 9 616559

Publications

26173643

Created: 21 Dec 2016, 2:51 p.m.

Panel version: 1.12

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: Activating mutations (see PMID: 26173643).
Created: 21 Dec 2016, 1:56 p.m.

Gene suggested to be added to this panel by a reviewer.
Created: 21 Dec 2016, 1:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Noonan syndrome 9

Created: 21 Dec 2016, 1:43 p.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Expert Review

Phenotypes

Noonan syndrome 9 616559

Tags

curated-variant-list

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

19 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 to Noonan syndrome 9 616559

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0