Rhabdomyolysis and metabolic muscle disorders
Gene: ACADVLEnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels
2 reviews
Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acyl-CoA dehydrogenase, very long chain, deficiency of
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 14 variants reported.Created: 1 Dec 2016, 4:23 p.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 14 variants reported.Created: 1 Dec 2016, 4:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- VLCAD deficiency, OMIM:201475
- OMIM
- 609575
- Clinvar variants
- Variants in ACADVL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Arthrogryposis
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- Hypertrophic cardiomyopathy
- DDG2P
- Acute rhabdomyolysis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ACADVL were changed from VLCAD deficiency 201475 to VLCAD deficiency, OMIM:201475
Set publications
Sarah Leigh (Genomics England Curator)Publications for ACADVL were set to 25929793; 8739957; 9973285
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ACADVL was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ACADVL were set to VLCAD deficiency 201475
Set publications
Sarah Leigh (Genomics England Curator)Publications for ACADVL were set to 25929793
Upload gene information
Sarah Leigh (Genomics England Curator)ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Sarah Leigh (Genomics England Curator)ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)ACADVL was created by sleigh