Hereditary ataxia with onset in adulthood
Gene: EPM2A
In Sheffield panel. 81DM in HGMD. epilepsy panel looks more appropriate.Created: 27 Apr 2019, 7:39 p.m.
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.
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
Source London North GMS was added to EPM2A.
Added phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 for gene: EPM2A
Source NHS GMS was added to EPM2A.
Source Wessex and West Midlands GLH was added to EPM2A.
Checked panel against panel constituents. Ready to promote to version 1.
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