Peroxisomal disordersGene: PEX16
Associated with phenotype in OMIM and G2P. At least four homozygous variants reported
Created: 23 Aug 2016, 1:14 p.m.
Comment on publications: PEX16 is not mentioned in 5655951. Supporting Drosphila model reported in 21826223
Created: 23 Aug 2016, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEROXISOME BIOGENESIS DISORDER 8B
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 3rd October 2016
Publications for PEX16 were set to 26870756; 26644994; 21826223; 20647552
PEX16 was created by sleigh
PEX16 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list