Ataxia - paediatric
Gene: EPM2A
EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. The condition is typically adolescent-onset progressive myoclonus epilepsy with progressive neurological degeneration, including cognitive and/or behavioural deterioration, dysarthria, ataxia, and, at later stages, spasticity and dementia. Periodic acid Schiff-positive intracellular polyglucason inclusion bodies (Lafora bodies) on skin biopsy are also a suggestive finding of the disease.
ClinGen Epilepsy GCEP have classified the gene-disease validity as DEFINITIVE. Classification - 05/23/2020.Created: 1 Apr 2022, 5:52 a.m. | Last Modified: 1 Apr 2022, 5:52 a.m.
Panel Version: 0.12422
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lafora disease MONDO:0009697
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Progressive myoclonic epilepsy 2A, Lafora, 254780
- Epilepsy, progressive myoclonic 2A (Lafora) 254780
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- None
- Panels with this gene
-
- Early-onset Parkinson disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Progressive Myoclonic Epilepsy
- Early-onset Dementia
- Glycogen Storage Diseases
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Genetic Epilepsy
History Filter Activity
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EPM2A was added gene: EPM2A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Progressive myoclonic epilepsy 2A, Lafora, 254780; Epilepsy, progressive myoclonic 2A (Lafora) 254780