Inherited white matter disorders
Gene: PEX13Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, more than 3 unrelated cases with different variants reported in OMIM. It is 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: 19 Aug 2016, 1:18 p.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).
Phenotypes for PEX13 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B
Publications for PEX13 were set to 25655951
Publications for PEX13 were set to 25655951;Peroxisome biogenesis disorder 11A (Zellweger);Peroxisome biogenesis disorder 11B
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
PEX13 was added to Inherited white matter disorderspanel. Sources: Expert list
PEX13 was created by [email protected]