Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: EPM2A
EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
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 reportedCreated: 6 Feb 2017, 12:14 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
-
- Expert Review
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Epilepsy, progressive myoclonic 2A (Lafora) 254780
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Undiagnosed metabolic disorders
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Glycogen storage disease
- Likely inborn error of metabolism
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 Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert Review,UKGTN