Peroxisomal disorders
Gene: PEX5
Comment when marking as ready: Gene rated green and diagnostic-grade by expert reviewer. Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypes. 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: 24 Aug 2016, 12:06 p.m.
Comment on phenotypes: Also associated with Rhizomelic chondrodysplasia punctata, type 5 616716Created: 24 Aug 2016, 11:58 a.m.
Associated with phenotype in OMIM and G2P. At least five variants reported across the three phenotypesCreated: 23 Aug 2016, 2:27 p.m.
Comment on publications: PEX5 is not mentioned in PMID 25655951Created: 23 Aug 2016, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 2B
Publications
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 PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370
Publications for PEX5 were set to 26220973; 27290639
Publications for PEX5 were set to 26220973; 27290639; 26220973
Publications for PEX5 were set to 26220973; 27290639
PEX5 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
PEX5 was created by sleigh