Genomics England

ACOX1

acyl-CoA oxidase 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	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 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL, Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.66	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Mitchell syndrome, MIM# 618960
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470, Mitchell syndrome, OMIM:618960
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 Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	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