Genomics England
GMS Panels
Panels
Genes and Entities

EPM2A

EPM2A, laforin glucan phosphatase
OMIM: 607566
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy of Lafora 1, OMIM:254780
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy of Lafora 1, OMIM:254780
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy of Lafora 1, OMIM:254780
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy of Lafora 1, OMIM:254780
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy of Lafora 1, OMIM:254780
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myoclonic epilepsy of Lafora 1, OMIM:254780