Hereditary ataxia with onset in adulthood
Gene: SCN8AEnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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)
Only a single paper linked to the OMIM ataxia phenotype; however, several patients with the other phenotypes reported as having cerebellar abnormalitiesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia, 614306, Epileptic encephalopathy 13, 614558, Benign familial infantile seizures 5, 617080
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Hereditary ataxia v1.148
- Phenotypes
-
- Cognitive impairment with or without cerebellar ataxia, OMIM:614306
- Developmental and epileptic encephalopathy 13, OMIM:614558
- OMIM
- 600702
- Clinvar variants
- Variants in SCN8A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult onset neurodegenerative disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SCN8A were set to 26677014
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080 for gene: SCN8A
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SCN8A.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to SCN8A.
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: SCN8A was added gene: SCN8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,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 paroxysmal kinesigenic dyskinesias; epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306