Hypertrophic cardiomyopathy - teen and adult

Gene: SOS1

Red List (low evidence)

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

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Noonan syndrome 4 (610773)
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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SOS1. Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOS1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list