Primary lymphoedema

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 17 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Created: 27 Jun 2019, 3:51 p.m. | Last Modified: 27 Jun 2019, 3:51 p.m.
Panel Version: 1.76

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function variants cause Noonan syndrome 4 610733
Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45

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

Phenotypes
Noonan syndrome 4 610733

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Noonan syndrome 4 610733
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

27 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SOS1 were set to

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sos1 has been classified as Green List (High Evidence).

27 Jun 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SOS1 was added gene: SOS1 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733 Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments