Glycogen storage disease

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

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XIII 612932

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • London North GLH
  • Expert Review Green
Phenotypes
  • Glycogen storage disease XIII 612932
OMIM
131370
Clinvar variants
Variants in ENO3
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ENO3 was added gene: ENO3 was added to Glycogen storage disease. Sources: Expert Review Green,London North GLH,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ENO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENO3 were set to Glycogen storage disease XIII 612932