Peroxisomal disordersGene: PEX2
Associated with phenotype in OMIM and G2P. At least three variants reported Peroxisome biogenesis disorder 5A (Zellweger) 614866 and five reported in Peroxisome biogenesis disorder 5B 614867. 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: 23 Aug 2016, 1:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEROXISOME BIOGENESIS DISORDER 5B
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 3rd October 2016
Publications for PEX2 were set to 23430938; 21392394; 25655951
Phenotypes for PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866; Peroxisome biogenesis disorder 5B, 614867
PEX2 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list
PEX2 was created by sleigh