Inherited white matter disordersGene: PEX5
Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes. Not 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, 12:06 p.m.
Comment on phenotypes: Also associated with Rhizomelic chondrodysplasia punctata, type 5 616716
Created: 24 Aug 2016, 11:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
Phenotypes for PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370
Publications for PEX5 were set to 26220973; 27290639
PEX5 was created by [email protected]
PEX5 was added to Inherited white matter disorderspanel. Sources: Expert list