Hydrops fetalis
Gene: SOS2

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, 10:01 p.m. | Last Modified: 11 Sep 2020, 10:01 p.m.

Panel Version: 0.193

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

Created: 11 Sep 2020, 10:01 p.m.
Last Modified: 11 Sep 2020, 10:01 p.m.
Panel version: 0.193

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Noonan syndrome 9, MIM# 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