Peroxisomal disordersGene: GNPAT
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 22 Aug 2016, 10:16 a.m.
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for GNPAT were set to Rhizomelic chondrodysplasia punctata, type 2 222765
GNPAT was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
GNPAT was created by sleigh
GNPAT was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN