Genomics England

EPM2A

EPM2A, laforin glucan phosphatase

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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 Signed-off version 9.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Myoclonic epilepsy of Lafora 1, OMIM:254780