Inherited white matter 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

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 7 Jul 2016, 7:03 a.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)
Created: 7 Jul 2016, 7:01 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency 264470
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
OMIM
609751
Clinvar variants
Variants in ACOX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

4 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy

4 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACOX1 were set to 25655951; 11815777; 17458872; Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648

4 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACOX1 were set to 25655951; 11815777; 17458872; Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_648

7 Jul 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).

7 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACOX1 were set to 25655951; 11815777; 17458872

7 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

7 Jul 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).

7 Jul 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ACOX1 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ACOX1 was created by ellenmcdonagh

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACOX1 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services