Hypertrophic cardiomyopathy - teen and adultGene: AGL
VLCAD deficiency 1A&B (232400)
Created: 25 Mar 2019, 4:30 p.m.
Assoc with AR glycogen storage disease - cardiomyopathy can be a key feature and age of onset is broad range - can be undefined myopathy: https://omim.org/clinicalSynopsis/232400.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source South West GLH was added to AGL. Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal
AGL was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list