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Hypertrophic cardiomyopathy v1.53 ACADVL Rebecca Whittington commented on gene: ACADVL: VLCAD deficiency (201475)
Hypertrophic cardiomyopathy v1.52 ACADVL Rebecca Whittington commented on gene: ACADVL: 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.
Hypertrophic cardiomyopathy v1.51 ACADVL Rebecca Whittington reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 ACADVL Ellen McDonagh Source South West GLH was added to ACADVL.
Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal