Hypertrophic cardiomyopathy - teen and adultGene: HRAS
Costello syndrome (218040)
Created: 25 Mar 2019, 4:30 p.m.
Listed in many panels. OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source South West GLH was added to HRAS. Mode of inheritance for gene HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
HRAS was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list