Ketotic hypoglycaemia

Gene: ENO3

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted form green to red due to expert review. In OMIM it is marked with a question mark relating to Glycogen storage disease as it has only been reported in one individual.
Created: 6 Apr 2016, 9:18 a.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Skeletal myopathy little evidence for ketotic hypoglycaemia
Created: 20 Oct 2015, 5:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease XIII, 612932
  • Glycogen Storage Disease Type XIII
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
OMIM
131370
Clinvar variants
Variants in ENO3
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ENO3 was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN