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Cardiomyopathies - including childhood onset

Gene: SOS1

Green List (high evidence)

SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 18 panels

4 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

Rebecca Whittington (South West GLH)

I don't know

?Fibromatosis, gingival, 1 OMIM#135300; Noonan syndrome 4 OMIM#610733
Created: 25 Mar 2019, 4:30 p.m.
Rasopathy gene. https://omim.org/clinicalSynopsis/610733. HCM and stenosis can be a key feature as shown in OMIM.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: G2P mutation consequence is activating. Comments from Reviewer:
Gain of function mutations in SOS1 cause Noonan syndrome. This disorder shares phenotypes with Legius syndrome, however mutations in SOS1 have not been described in patients with Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:52 a.m. Gain of function mutations in SOS1 cause ~10% of Noonan syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 3:58 p.m.
Created: 5 Feb 2016, 12:48 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM, and not on imprinted gene list.
Created: 5 Feb 2016, 8:25 a.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations.
Created: 1 Feb 2016, 10:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert List
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Noonan syndrome 4 610733
  • syndromic HCM
  • Noonan syndrome
  • Noonan syndrome 4
OMIM
182530
Clinvar variants
Variants in SOS1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - 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 SOS1.

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 SOS1. Mode of pathogenicity for gene SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome 4 610733 for gene: SOS1 Publications for gene SOS1 were changed from 17586837; 17143285; PMID: 19438935; 17143282 to 19438935; 17143285; 17143282; 17586837

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: SOS1 was added gene: SOS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOS1 were set to 17586837; 17143285; PMID: 19438935; 17143282 Phenotypes for gene: SOS1 were set to Noonan syndrome 4; syndromic HCM; Noonan syndrome