Genomics England
GMS Panels
Panels
Genes and Entities

ACADVL

acyl-CoA dehydrogenase very long chain
OMIM: 609575
PanelMode of inheritanceDetails
7 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 3.79
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 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
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 4.24
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 3.44
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 3.39
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency, OMIM:201475