Inherited white matter disorders
Gene: PEX3Comment when marking as ready: 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
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.
Phenotypes for PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Publications for PEX3 were set to 25655951; 23245813; 10968777
This gene has been classified as Green List (High Evidence).
Publications for PEX3 were set to 25655951
This gene has been classified as Green List (High Evidence).
PEX3 was added to Inherited white matter disorderspanel. Sources: Expert list
PEX3 was created by [email protected]