1. Genes and Genomic Entities
  2. EPM2A

EPM2A

EPM2A, laforin glucan phosphatase
OMIM: 607566, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Red EPM2A in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.10

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Green EPM2A in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Green EPM2A in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.67
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Glycogen storage disease


    Level 2: Metabolic
    Version 2.6
    Latest signed off version: v2.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.16
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Literature
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.98
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Red EPM2A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Green EPM2A in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.26
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780
    Red EPM2A in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Myoclonic epilepsy of Lafora 1, OMIM:254780