Glycogen storage disease
Gene: EPM2AEnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
1 review
Carol Hardy (West Midlands Regional Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora) 254780
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Phenotypes
-
- Myoclonic epilepsy of Lafora 1, OMIM:254780
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Ketotic hypoglycaemia
- Intellectual disability
- Hereditary ataxia
- Glycogen storage disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) 254780 to Myoclonic epilepsy of Lafora 1, OMIM:254780
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: EPM2A was added gene: EPM2A was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780