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Newborns main panel

Gene: SCN2A

Amber List (moderate evidence)
SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Additional Information: Link to Epilepsy Sodium Channel Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50105/
Created: 25 Sep 2024, 10:01 a.m. | Last Modified: 25 Sep 2024, 10:01 a.m.
Panel Version: 0.469
Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 24 May 2024, 9:46 a.m. | Last Modified: 24 May 2024, 9:46 a.m.
Panel Version: 0.457
Created: 24 May 2024, 9:46 a.m.
Last Modified: 24 May 2024, 9:46 a.m.
Panel version: 0.469

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green and "internal_inclusion_list_only" tag added.
Created: 5 Feb 2024, 11:19 a.m. | Last Modified: 5 Feb 2024, 11:19 a.m.
Panel Version: 0.280
Created: 5 Feb 2024, 11:19 a.m.
Last Modified: 5 Feb 2024, 11:19 a.m.
Panel version: 0.280

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 31904126 - review >60 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Early infantile epileptic encephalopathy-11
Tags
internal_inclusion_list_only
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

24 May 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: scn2a has been classified as Amber List (Moderate Evidence).

14 Feb 2024, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: SCN2A.

5 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: scn2a has been classified as Green List (High Evidence).

19 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

Gene: scn2a has been classified as Amber List (Moderate Evidence).

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Early infantile epileptic encephalopathy-11 for gene: SCN2A

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SCN2A. Added phenotypes Early infantile epileptic encephalopathy-11 for gene: SCN2A Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SCN2A. Mode of pathogenicity for gene SCN2A was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Early infantile epileptic encephalopathy-11 for gene: SCN2A Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SCN2A was added gene: SCN2A was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN2A were set to Early infantile epileptic encephalopathy-11