Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SCN1A

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in unrelated cases.
Created: 4 May 2021, 3:18 p.m. | Last Modified: 4 May 2021, 3:18 p.m.
Panel Version: 2.156
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 4 May 2021, 3:14 p.m. | Last Modified: 4 May 2021, 3:14 p.m.
Panel Version: 2.155

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

4 May 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SCN1A.

4 May 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCN1A were set to 27264139; 27817982; 28732259

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: scn1a has been classified as Amber List (Moderate Evidence).

4 May 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SCN1A were changed from Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 to Dravet syndrome OMIM:607208; developmental and epileptic encephalopathy, 6 MONDO:0100079

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