Rhabdomyolysis and metabolic muscle disorders

Gene: ENO3

Green List (high evidence)

ENO3 (enolase 3)
EnsemblGeneIds (GRCh38): ENSG00000108515
EnsemblGeneIds (GRCh37): ENSG00000108515
OMIM: 131370, Gene2Phenotype
ENO3 is in 9 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

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.

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 612932
OMIM
131370
Clinvar variants
Variants in ENO3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

2 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ENO3 were set to 11506403; 25929793; 25267339

1 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

ENO3 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene ENO3 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene ENO3 were set to ?Glycogen storage disease XIII 612932

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ENO3 was created by sleigh

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ENO3 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN