Paroxysmal central nervous system disorders
Gene: SCN8AEnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
5 reviews
Robyn Labrum (UCLH NHS Trust)
Primarily epilepsy but has been associated in one family with myoclonus so perhaps one to watch.Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Penny Clouston (Oxford)
Happy with red as mainly epilepsy associated.Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Amber.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Comment on list classification: Demoted rating of SCN8A from Green to Amber, awaiting further clinical review: currently one Red rating by London North GLH, and one Amber rating from West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:26 p.m. | Last Modified: 9 Sep 2019, 3:26 p.m.
Panel Version: 0.71
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Mainly epilepsy, but also dyskinesia?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 13, 614558; Seizures, benign familial infantile, 5, 617080
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Seizures, benign familial infantile, 5, OMIM:617080
- Paroxysmal kinesigenic dyskinesias
- ?Myoclonus, familial, 2, OMIM:618364
- OMIM
- 600702
- Clinvar variants
- Variants in SCN8A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Brain channelopathy
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SCN8A were changed from Epileptic encephalopathy, early infantile, 13, 614558; Seizures, benign familial infantile, 5, 617080; paroxysmal kinesigenic dyskinesias to Seizures, benign familial infantile, 5, OMIM:617080; Paroxysmal kinesigenic dyskinesias; ?Myoclonus, familial, 2, OMIM:618364
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias to Epileptic encephalopathy, early infantile, 13, 614558; Seizures, benign familial infantile, 5, 617080; paroxysmal kinesigenic dyskinesias
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: scn8a has been classified as Amber List (Moderate Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to SCN8A.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to SCN8A.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to SCN8A.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes epilepsy; paroxysmal kinesigenic dyskinesias for gene: SCN8A
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SCN8A was added gene: SCN8A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias