ACOX1

acyl-CoA oxidase 1
OMIM: 609751
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470, Mitchell syndrome, OMIM:618960
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY PSEUDONEONATAL, Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
R-numbers: R78
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mitchell syndrome, MIM# 618960
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470, Mitchell syndrome, OMIM:618960
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 5.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470, Mitchell syndrome, OMIM:618960, General Leukodystrophy & Mitochondrial Leukoencephalopathy