Peroxisomal disordersGene: PEX3
Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least four variants reported. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.
Created: 24 Aug 2016, 10:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
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).
PEX3 was added to Peroxisomal disorderspanel. Sources: UKGTN
Publications for PEX3 were set to 23245813; 25655951; 10968777
Phenotypes for PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
PEX3 was created by sleigh
PEX3 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list