RASopathies

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

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

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

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

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

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

21 Dec 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SOS2 were set to 25795793;26173643

21 Dec 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SOS2 were set to 25795793

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SOS2 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOS2 was added to RASopathiespanel. Sources: Expert Review