Adult onset neurodegenerative disorder
Gene: SCN8A
Familial myoclonus - not progressive: red. Cognitive impairment with/without cerebellar ataxia - developmental disorder with early onset: redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306; paroxysmal kinesigenic dyskinesias
Onset of seizures before age 2 yearsCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306; paroxysmal kinesigenic dyskinesias
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
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. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Source Expert Review Red was added to SCN8A. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to SCN8A.
Source Yorkshire and North East GLH was added to SCN8A.
Source NHS GMS was added to SCN8A.
Source London North GLH was added to SCN8A.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
gene: SCN8A was added gene: SCN8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias