Inherited white matter disorders
Gene: PEX1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for Peroxisome biogenesis disorder complementation group I, more than 3 unrelated cases and different variants reported in OMIM. 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 for Peroxisome biogenesis disorder 1A,B.Created: 19 Aug 2016, 12:01 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 PEX1 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome biogenesis disorder 1A,B;Peroxisome biogenesis disorder 1A (Zellweger)
Publications for PEX1 were set to 25655951
This gene has been classified as Green List (High Evidence).
This gene has been removed from the panel.
PEX1 was created by [email protected]
PEX1 was added to Inherited white matter disorderspanel. Sources: Expert list