Hydrops fetalis
Gene: SOS1

SOS1 (SOS Ras/Rac guanine nucleotide exchange factor 1)
EnsemblGeneIds (GRCh38): ENSG00000115904
EnsemblGeneIds (GRCh37): ENSG00000115904
OMIM: 182530, Gene2Phenotype
SOS1 is in 14 panels

1 review

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

Well established gene disease association for Noonan Syndrome type 4.
ASD appears to be relatively rare in affected individuals with SOS1 mutations and macrocephaly is overrepresented among those with SOS1 mutations.

Expert Panel reviewed
Created: 22 Mar 2022, 6:18 a.m. | Last Modified: 22 Mar 2022, 6:18 a.m.

Panel Version: 0.221

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome 4; #MIM:610733

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Mar 2022, 6:18 a.m.
Last Modified: 22 Mar 2022, 6:18 a.m.
Panel version: 0.221

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Noonan syndrome 4
#MIM: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