Hereditary ataxia

Gene: EPM2A

Green List (high evidence)

EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Lafora Epilepsy typically starts between ages 12-17, and is characterized by epilepsy (myoclonus or generalised) and progressive neurological deterioration (including dementia, ataxia), comments from Dr Arianna Tucci (Neurology, UCL).
Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported
Created: 6 Feb 2017, 12:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora) 254780

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
OMIM
607566
Clinvar variants
Variants in EPM2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EPM2A was created by sleigh

6 Feb 2017, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

EPM2A was added to Hereditary ataxiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert Review,UKGTN