Inherited white matter disorders
Gene: PEX10Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 and ZELLWEGER SYNDROME, 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 6A,B.Created: 19 Aug 2016, 12:10 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 PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7;ZELLWEGER SYNDROME
Publications for PEX10 were set to 25655951
This gene has been classified as Green List (High Evidence).
PEX10 was added to Inherited white matter disorderspanel. Sources: Expert list
PEX10 was created by [email protected]