Hypertrophic cardiomyopathy - teen and adultGene: ACADVL
VLCAD deficiency (201475)
Created: 25 Mar 2019, 4:30 p.m.
BGL: 5 variants detected all heterozygous. 2 LP or P. Just for paediatric panel due to BioMet guidelines. OMIM: can be key feature associated with cardiomyopathy and sudden death - infantile.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source South West GLH was added to ACADVL. Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
ACADVL was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list