ACOX1

acyl-CoA oxidase 1
OMIM: 609751, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ACOX1 in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green ACOX1 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960 General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green ACOX1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert list Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960 General Leukodystrophy & Mitochondrial Leukoencephalopathy
Green ACOX1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green ACOX1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green ACOX1 in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green ACOX1 in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
Amber ACOX1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.39 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber
Green ACOX1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960
Green ACOX1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 Mitchell syndrome, OMIM:618960 Tags watchlist_moi
Green ACOX1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Mitchell syndrome, MIM# 618960
Green ACOX1 in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
Green ACOX1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470