Mitochondrial disease
Gene: ACADVLEnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 28 Oct 2021, 7:42 a.m. | Last Modified: 28 Oct 2021, 7:42 a.m.
Panel Version: 0.9511
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency, MIM# 201475
Bryony Thompson (Royal Melbourne Hospital)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a mitochondrial fatty acid oxidation disorder. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 7 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency MIM#201475
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- VLCAD deficiency MIM#201475
- Tags
- OMIM
- 609575
- Clinvar variants
- Variants in ACADVL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fatty Acid Oxidation Defects
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Mendeliome
- BabyScreen+ newborn screening
- Mitochondrial disease
- Hyperammonaemia
- Prepair 500+
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ACADVL.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acadvl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acadvl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACADVL was added gene: ACADVL was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 25778941; 8845838; 29459657 Phenotypes for gene: ACADVL were set to VLCAD deficiency MIM#201475 Review for gene: ACADVL was set to GREEN