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Cardiomyopathies - including childhood onset

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

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
  • NHS GMS
  • Expert List
  • London South GLH
  • Expert Review Green
Phenotypes
  • Noonan syndrome 9 616559
  • Noonan syndrome 9
OMIM
601247
Clinvar variants
Variants in SOS2
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SOS2.

4 Sep 2019, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Expert List was added to SOS2. Mode of pathogenicity for gene SOS2 was changed from to Other - please provide details in the comments Added phenotypes Noonan syndrome 9 616559 for gene: SOS2 Publications for gene SOS2 were changed from 25795793; 26173643 to 26173643; 25795793

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SOS2 was added gene: SOS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH 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