Peroxisomal disordersGene: ACOX1
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Publications for ACOX1 were set to 25655951
Phenotypes for ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470
ACOX1 was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory
ACOX1 was added to Peroxisomal disorderspanel. Sources: UKGTN
ACOX1 was added to Peroxisomal disorderspanel. Source: Radboud University Medical Center, Nijmegen
ACOX1 was created by sleigh
ACOX1 was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services