Inherited white matter disorders
Gene: PEX2Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least six variants reported in three cases. 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, 10:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
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).
PEX2 was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Green List (High Evidence).
Phenotypes for PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) 614866; Peroxisome biogenesis disorder 5B 614867
Publications for PEX2 were set to 25655951
PEX2 was added to Inherited white matter disorderspanel. Sources: Expert list
PEX2 was created by [email protected]