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 1.2

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 1.48

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Green EPM2A in Ataxia and cerebellar anomalies - narrow panel


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)

Green EPM2A in Glycogen storage disease


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Green EPM2A in Hereditary ataxia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.205

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Expert Review
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Green EPM2A in Neurodegenerative disorders - adult onset


Version 2.0

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
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Green EPM2A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Green EPM2A in Inborn errors of metabolism


Version 2.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)

Green EPM2A in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Red EPM2A in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Amber
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Green EPM2A in Hereditary ataxia - adult onset


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Progressive myoclonic epilepsy 2A, Lafora, 254780
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780

Red EPM2A in Childhood onset dystonia or chorea or related movement disorder


Version 1.0

review Not set
Sources
  • Expert Review Red
  • London North GLH