Hyperammonaemia
Gene: ACADVL
ACADVL (acyl-CoA dehydrogenase very long chain)
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 13 panels
1 review
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Genomics England PanelApp
- Victorian Clinical Genetics Services
- Phenotypes
-
- VLCAD deficiency 201475
- Tags
- OMIM
- 609575
- Clinvar variants
- Variants in ACADVL
- Penetrance
- None
- 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
5 Oct 2022, Gel status: 3
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ACADVL.
29 Jan 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACADVL was added gene: ACADVL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADVL were set to VLCAD deficiency 201475