Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: SCN8A

Red List (low evidence)

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

post-natal onset
Created: 7 Feb 2022, 4:26 a.m. | Last Modified: 7 Feb 2022, 4:26 a.m.
Panel Version: 0.3151

Phenotypes
Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive; Myoclonus, familial, 2, MIM# 618364; paroxysmal kinesigenic dyskinesias; Cognitive impairment with or without cerebellar ataxia, MIM# 614306

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive
  • Myoclonus, familial, 2, MIM# 618364
  • paroxysmal kinesigenic dyskinesias
  • Cognitive impairment with or without cerebellar ataxia, MIM# 614306
OMIM
600702
Clinvar variants
Variants in SCN8A
Penetrance
None
Panels with this gene

History Filter Activity

8 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn8a has been classified as Red List (Low Evidence).

8 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN8A were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA to Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive; Myoclonus, familial, 2, MIM# 618364; paroxysmal kinesigenic dyskinesias; Cognitive impairment with or without cerebellar ataxia, MIM# 614306

24 Oct 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN8A was added gene: SCN8A was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA