Rhabdomyolysis and metabolic muscle disorders

Gene: ACADVL

Green List (high evidence)

ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 16 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

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.

History Filter Activity

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACADVL were set to 25929793; 8739957; 9973285

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

1 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ACADVL was changed to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ACADVL were set to VLCAD deficiency 201475

1 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACADVL were set to 25929793

24 Nov 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory

24 Nov 2016, Gel status: 3

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

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ACADVL was created by sleigh

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ACADVL was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN