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  2. Recurrent episodic apnoea
  3. SCN2A
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Recurrent episodic apnoea

Gene: SCN2A

Green List (high 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)

Green List (high evidence)

The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Created: 1 Feb 2023, 2:43 p.m.
Last Modified: 1 Feb 2023, 2:43 p.m.
Panel version: 0.91

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM Seizures, benign familial infantile, 3 (OMIM:607745). At least eight SCN2A variants have been reported in this phenotype and PMID: 28379373 reports four cases where apnea was observed.
Created: 22 Dec 2022, 2:07 p.m. | Last Modified: 22 Dec 2022, 2:07 p.m.
Panel Version: 0.18
Created: 22 Dec 2022, 2:07 p.m.
Last Modified: 22 Dec 2022, 2:07 p.m.
Panel version: 0.18

Eleanor Williams (Genomics England Curator)

Gene added on recommendation of Dr Emma Matthews.
Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Created: 21 Dec 2022, 2:49 p.m.
Last Modified: 21 Dec 2022, 2:49 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Seizures, benign familial infantile, 3, OMIM:607745
  • seizures, benign familial infantile, 3 MONDO:0011904
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

22 Dec 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SCN2A were set to

22 Dec 2022, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SCN2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Dec 2022, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SCN2A were changed from to Seizures, benign familial infantile, 3, OMIM:607745; seizures, benign familial infantile, 3 MONDO:0011904

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: SCN2A was added gene: SCN2A was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: SCN2A was set to