Lymphoedema_syndromic

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 affected individuals reported. Notably, lymphatic anomalies are extraordinarily frequent, affecting more than half of the patients, manifesting as increased NT and hydrops antenatally, and congenital chylothorax in the newborn period. Notably, lymphedema occurring after newborn period, such as lymphedema of lower limbs and genitalia, is found in almost half of the reported individuals. The missense changes c.791C>A p.(Thr264Lys), c.800T>G p.(Met267Arg), c.800T>A p.(Met267Lys), and c.1127C>G p.(Thr376Ser) are recurrent.
Created: 11 Sep 2020, 10:04 p.m. | Last Modified: 11 Sep 2020, 10:04 p.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome 9, MIM# 616559

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Noonan syndrome 9 616559
OMIM
601247
Clinvar variants
Variants in SOS2
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

13 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sos2 has been classified as Green List (High Evidence).

11 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOS2 were set to 25795793; 26173643

29 Jan 2020, Gel status: 3

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

Sue White (Victorian Clinical Genetics Services)

gene: SOS2 was added gene: SOS2 was added to Lymphoedema_syndromic. Sources: Expert Review,Expert Review Green 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 616559 Mode of pathogenicity for gene: SOS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments