Peroxisomal disordersGene: PEX6
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous 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, 7:05 a.m.
Comment on phenotypes: Variants also reported in Heimler syndrome 2 616617
Created: 24 Aug 2016, 7:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEROXISOME BIOGENESIS DISORDER 4B
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) 614862; Peroxisome biogenesis disorder 4B 614863
PEX6 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list
PEX6 was created by sleigh