Genomics England
GMS Panels
Panels
Genes and Entities

EPM2A

EPM2A, laforin glucan phosphatase
OMIM: 607566
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora)
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora) 254780
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora) 254780
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 2A, Lafora, 254780, Epilepsy, progressive myoclonic 2A (Lafora) 254780
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora)
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 2.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora) 254780