Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ACADVLEnsemblGeneIds (GRCh38): ENSG00000072778
EnsemblGeneIds (GRCh37): ENSG00000072778
OMIM: 609575, Gene2Phenotype
ACADVL is in 15 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 5:18 p.m. | Last Modified: 28 Nov 2019, 5:18 p.m.
Panel Version: 1.165
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 5:18 p.m. | Last Modified: 28 Nov 2019, 5:18 p.m.
Panel Version: 1.164
Chiara Marini Bettolo (NUTH)
metabolic myopathy but differential diagnosis with LGMDCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overlap phenotype with LGMDCreated: 10 May 2019, 3:55 p.m.
1) severe neonatal/early-childhood onset form presenting with cardiomyopathy, hepatic disease and hypotonia with high mortality in infancy, 2) milder childhood onset form with hypoketotic hypoglycaemia, hypotonia with or without hepatic disease and 3) adult-onset form presenting with exercise intolerance, muscle cramps and rhabdomyolisisCreated: 10 May 2019, 3:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
metabolic myopathy; rhabdomyolsis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
- Phenotypes
-
- VLCAD deficiency, 201475
- metabolic myopathy
- rhabdomyolsis
- OMIM
- 609575
- Clinvar variants
- Variants in ACADVL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: ACADVL was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: acadvl has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ACADVL.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ACADVL.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 to VLCAD deficiency, 201475; metabolic myopathy; rhabdomyolsis
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ACADVL were set to 7668252; 27246109
Set mode of inheritance, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes VLCAD deficiency, 201475 for gene: ACADVL Publications for gene ACADVL were changed from to 7668252; 27246109
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ACADVL was added gene: ACADVL was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ACADVL was set to