ACOX1

acyl-CoA oxidase 1
OMIM: 609751
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 1.137
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADRENOLEUKODYSTROPHY PSEUDONEONATAL, Peroxisomal acyl-CoA oxidase deficiency, 264470
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency 264470
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
Peroxisomal acyl-CoA oxidase deficiency, Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency, 264470, ADRENOLEUKODYSTROPHY PSEUDONEONATAL (PSEUDO-NALD)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal acyl-CoA oxidase deficiency 264470, General Leukodystrophy & Mitochondrial Leukoencephalopathy