ACOX1

acyl-CoA oxidase 1
OMIM: 609751, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green ACOX1 in Mendeliome Version 1.2302	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960
Green ACOX1 in Peroxisomal Disorders Level 2: Metabolic disorders Version 0.54 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Green ACOX1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960
Green ACOX1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mitchell syndrome, MIM# 618960
Green ACOX1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mitchell syndrome, MIM# 618960
Green ACOX1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960
Green ACOX1 in Leukodystrophy - paediatric Level 2: Neurology and neurodevelopmental disorders Version 0.318 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960
Red ACOX1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.86 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Pseudoneonatal adrenoleukodystrophy
Green ACOX1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mitchell syndrome, MIM# 618960
Green ACOX1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Green ACOX1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Peroxisomal acyl-CoA oxidase deficiency
Green ACOX1 in Fetal anomalies Version 1.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470
Green ACOX1 in Prepair 1000+ Level 2: Screening Version 1.1566	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Red ACOX1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960
Green ACOX1 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)