Hereditary ataxia with onset in adulthood
Gene: EPM2AEnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In Sheffield panel. 81DM in HGMD. epilepsy panel looks more appropriate.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Gait disturbance reported as part of phenotype. However, not convinced this panel is the best place for this geneCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 2A, Lafora, 254780
Details
- Mode of Inheritance
- 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
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Ketotic hypoglycaemia
- Intellectual disability
- Hereditary ataxia
- Glycogen storage disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPM2A were changed from Progressive myoclonic epilepsy 2A, Lafora, 254780; Epilepsy, progressive myoclonic 2A (Lafora) 254780 to Myoclonic epilepsy of Lafora 1, OMIM:254780
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to EPM2A.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 for gene: EPM2A
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to EPM2A.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to EPM2A.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: EPM2A was added gene: EPM2A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308; 14722920; 10932264 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780