Hypertrophic cardiomyopathy - teen and adultGene: SOS1
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
Source South West GLH was added to SOS1. Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SOS1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list