ACADVL

acyl-CoA dehydrogenase very long chain
OMIM: 609575
PanelMode of inheritanceDetails
6 panels
R-numbers: R135
Signed-off version 1.4
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 DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency, Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency, 201475, metabolic myopathy, rhabdomyolsis
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VLCAD deficiency 201475