Inherited white matter disorders
Gene: PEX16Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 and ZELLWEGER SYNDROME, at least 3 unrelated cases with different variants reported in OMIM. 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, 3:21 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 PEX16 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 8A, (Zellweger);Peroxisome biogenesis disorder 8B;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Publications for PEX16 were set to
This gene has been classified as Green List (High Evidence).
PEX16 was created by [email protected]
PEX16 was added to Inherited white matter disorderspanel. Sources: Expert list