Ataxia - paediatric
Gene: SCN8AEnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 9 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
LoF missense are associated with Cognitive impairment with or without cerebellar ataxia while GoF is associated with Epileptic encephalopathy, early infantile, 13
GoF is speculated for Seizures, benign familial infantile, 5 (OMIM)
Majority of Epileptic encephalopathy, early infantile, 13 variants are de novo. Very rarely inherited from a mosaic parent
Multiple hotspots across ion transport domains (Decipher)Created: 29 Oct 2020, 10:40 p.m. | Last Modified: 29 Oct 2020, 10:40 p.m.
Panel Version: 0.5180
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Myoclonus, familial, 2 618364; Cognitive impairment with or without cerebellar ataxia 614306; Epileptic encephalopathy, early infantile, 13 614558; Seizures, benign familial infantile, 5 617080
Publications
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Ataxia is part of SCN8A-related neurodevelopmental phenotypes.Created: 12 Sep 2020, 7:55 a.m. | Last Modified: 12 Sep 2020, 7:55 a.m.
Panel Version: 0.252
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Epileptic encephalopathy, early infantile, 13, MIM# 614558
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Epileptic encephalopathy 13, 614558
- Cognitive impairment with or without cerebellar ataxia, 614306
- OMIM
- 600702
- Clinvar variants
- Variants in SCN8A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: scn8a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SCN8A were changed from epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 to Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SCN8A were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SCN8A was added gene: SCN8A was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN8A were set to epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306