This Panel is marked as Retired
Epilepsy Plus
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
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Details
- Sources
-
- Expert
- Expert Review Red
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Glycogen storage disease
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)EPM2A was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EPM2A was created by ellenmcdonagh