Rhabdomyolysis and metabolic muscle disorders
Gene: ACADVL
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
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.
Phenotypes for gene: ACADVL were changed from VLCAD deficiency 201475 to VLCAD deficiency, OMIM:201475
Publications for ACADVL were set to 25929793; 8739957; 9973285
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ACADVL was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene ACADVL were set to VLCAD deficiency 201475
Publications for ACADVL were set to 25929793
ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory
ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
ACADVL was created by sleigh