Peroxisomal disordersGene: PEX14
Comment on list classification: Three different homozygous variants reported in unrelated patients. Functional studies also presented. Associated with phenotype in OMIM and G2P
Created: 23 Aug 2016, 12:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
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).
Publications for PEX14 were set to 15146459; 26627464; 18285423
Publications for PEX14 were set to 26627464; 18285423
Publications for PEX14 were set to 21686775; 26627464; 18285423
Phenotypes for PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) 614887
PEX14 was created by sleigh
PEX14 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list