Genomics England

ACADVL

acyl-CoA dehydrogenase very long chain

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VLCAD deficiency, OMIM:201475
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VLCAD deficiency, Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VLCAD deficiency, 201475, metabolic myopathy, rhabdomyolsis
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 5.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VLCAD deficiency, Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation), syndromic HCM, Liver disease, hepatomegaly, hypoketotic hypoglycaemia, Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form), DCM, mixed, HCM
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VLCAD deficiency, OMIM:201475