Peroxisomal disordersGene: PEX11B
Comment on list classification: Three variants, plus a mouse model
Created: 24 Aug 2016, 8:04 a.m.
Two homozygous nonsense variants reported in the literature and a third case reported by Manchester Centre for Genomic Medicine . Mouse model supports association of this gene with this phenotype
Created: 24 Aug 2016, 8:03 a.m.
Comment on publications: 21954064 mouse model
Created: 19 Aug 2016, 1:30 p.m.
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Publications for PEX11B were set to 22581968; 21954064; 26233629
Publications for PEX11B were set to 22581968; 21954064
Phenotypes for PEX11B were set to Peroxisome biogenesis disorder 14B 614920
Mode of inheritance for PEX11B was changed to BIALLELIC, autosomal or pseudoautosomal
PEX11B was created by sleigh
PEX11B was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list