Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SCN1A

No list

SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 15 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ataxia is part of the phenotype.
Sources: Expert list
Created: 12 Sep 2020, 7:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208

Publications

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

History Filter Activity

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SCN1A was added gene: SCN1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 27264139; 27817982; 28732259 Phenotypes for gene: SCN1A were set to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Review for gene: SCN1A was set to GREEN gene: SCN1A was marked as current diagnostic