Rhabdomyolysis and metabolic muscle disordersGene: ENO3
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Four variants reported, two as compound heterozygotes and two as homozygotes in large families
Created: 2 Dec 2016, 11:15 a.m.
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Publications for ENO3 were set to 11506403; 25929793; 25267339
ENO3 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene ENO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene ENO3 were set to ?Glycogen storage disease XIII 612932
ENO3 was created by sleigh
ENO3 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN