Peroxisomal disordersGene: PEX7
Associated with phenotype in OMIM and G2P. At least seven variants reported
Created: 24 Aug 2016, 7:18 a.m.
Promoted to V1 3rd October 2016
Phenotypes for PEX7 were set to Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1 215100
PEX7 was created by sleigh
PEX7 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list