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  2. Likely inborn error of metabolism
  3. EPM2A
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Likely inborn error of metabolism

Gene: EPM2A

Green List (high evidence)
EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported
Created: 19 Jan 2017, 2:13 p.m.
Created: 19 Jan 2017, 2:13 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.240

History Filter Activity

26 Mar 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) to Myoclonic epilepsy of Lafora 1, OMIM:254780

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to EPM2A. Source London North GLH was added to EPM2A.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: EPM2A was added gene: EPM2A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)