Peroxisomal disordersGene: AGPS
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported in four patients, supporting functional and mouse model studies available.
Created: 22 Aug 2016, 9:18 a.m.
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Publications for AGPS were set to 11152660; 21990100; 25197626; 24849933
Phenotypes for AGPS were set to Rhizomelic chondrodysplasia punctata, type 3 600121
AGPS was added to Peroxisomal disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
AGPS was added to Peroxisomal disorderspanel. Source: Expert list
AGPS was created by sleigh
AGPS was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN