Peroxisomal disorders

Gene: ACOX1

Green List (high evidence)

ACOX1 (acyl-CoA oxidase 1)
EnsemblGeneIds (GRCh38): ENSG00000161533
EnsemblGeneIds (GRCh37): ENSG00000161533
OMIM: 609751, Gene2Phenotype
ACOX1 is in 10 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.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY

Publications

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

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 264470
OMIM
609751
Clinvar variants
Variants in ACOX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACOX1 were set to 25655951

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACOX1 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory

22 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

ACOX1 was added to Peroxisomal disorderspanel. Sources: UKGTN

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ACOX1 was added to Peroxisomal disorderspanel. Source: Radboud University Medical Center, Nijmegen

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ACOX1 was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ACOX1 was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services