Peroxisomal disorders
Gene: ACOX1

ACOX1 (acyl-CoA oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least 7 variants reported
Created: 22 Aug 2016, 8:25 a.m.

Created: 22 Aug 2016, 8:25 a.m.

Panel version: 0.19

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Publications

25655951

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Aug 2016, 2:01 p.m.

Panel version: 0.14

Details

Mode of Inheritance

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

OMIM

609751

Clinvar variants

Variants in ACOX1

Penetrance

Complete

Publications

25655951

Panels with this gene

History Filter Activity

2 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470 to Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470

3 Oct 2016, Gel status: 4