Hypertrophic cardiomyopathy - teen and adultGene: SHOC2
Noonan-like syndrome with loose anagen hair (607721)
Created: 25 Mar 2019, 4:30 p.m.
Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source South West GLH was added to SHOC2. Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SHOC2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list