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  2. Rhabdomyolysis and Metabolic Myopathy
  3. ENO3
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Rhabdomyolysis and Metabolic Myopathy

Gene: ENO3

Green List (high evidence)
ENO3 (enolase 3)
EnsemblGeneIds (GRCh38): ENSG00000108515
EnsemblGeneIds (GRCh37): ENSG00000108515
OMIM: 131370, Gene2Phenotype
ENO3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

5 cases have been reported. Rhabdomyolysis is a prominent feature of the condition.
Sources: Expert list
Created: 12 Feb 2020, 2:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XIII MIM#612932

Publications

Created: 12 Feb 2020, 2:46 a.m.

Panel version: Imported from Myopathy Superpanel panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease XIII 612932
OMIM
131370
Clinvar variants
Variants in ENO3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eno3 has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ENO3 were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ENO3 was added gene: ENO3 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green 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