Paediatric or syndromic cardiomyopathy
Gene: SOS2
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
Comment on list classification: Discussed internally and recommended by expert reviewerCreated: 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 geneCreated: 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
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
Source NHS GMS was added to SOS2.
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
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