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