Rhabdomyolysis and metabolic muscle disorders
Gene: ENO3

ENO3 (enolase 3)
EnsemblGeneIds (GRCh38): ENSG00000108515
EnsemblGeneIds (GRCh37): ENSG00000108515
OMIM: 131370, Gene2Phenotype
ENO3 is in 8 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

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

Created: 14 Jul 2017, 3:07 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

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.

Created: 2 Dec 2016, 11:15 a.m.

Panel version: 0.65

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Glycogen storage disease XIII, OMIM:612932

OMIM

131370

Clinvar variants

Variants in ENO3

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ENO3 were changed from ?Glycogen storage disease XIII 612932 to Glycogen storage disease XIII, OMIM:612932

4 Jan 2017, Gel status: 4