Hypertrophic cardiomyopathy
Gene: ACADVL
ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels
2 reviews
Rebecca Whittington (South West GLH)
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
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 609575
- Clinvar variants
- Variants in ACADVL
- Penetrance
- Complete
- Panels with this gene
-
- Acute rhabdomyolysis
- Intellectual disability
- DDG2P
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Rhabdomyolysis and metabolic muscle disorders
- Hypertrophic cardiomyopathy
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Arthrogryposis
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to ACADVL. Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ACADVL was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list