Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ACADVLComment 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
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
Mode of inheritance for gene: ACADVL was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: acadvl has been classified as Green List (High Evidence).
Source NHS GMS was added to ACADVL.
Source Yorkshire and North East GLH was added to ACADVL.
Phenotypes for gene: ACADVL were changed from VLCAD deficiency, 201475 to VLCAD deficiency, 201475; metabolic myopathy; rhabdomyolsis
Publications for gene: ACADVL were set to 7668252; 27246109
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
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