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
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
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