Rhabdomyolysis and metabolic muscle disorders
Gene: ENO3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XIII
Publications
Variants in this GENE are reported as part of current diagnostic practice
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 familiesCreated: 2 Dec 2016, 11:15 a.m.
Phenotypes for gene: ENO3 were changed from ?Glycogen storage disease XIII 612932 to Glycogen storage disease XIII, OMIM:612932
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 added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN
ENO3 was created by sleigh