Recurrent episodic apnoea
Gene: SCN8A

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 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 Developmental and epileptic encephalopathy 13 (OMIM: 614558), Seizures, benign familial infantile, 5 (OMIM:617080) and as definitive Gen2Phen gene for epileptic encephalopathy, early infantile 13. At least eight variants have been reported in OMIM: 614558 and two in OMIM:617080. Apnea has been reported in both of these phenotypes (PMIDs: 30078772 & 27210545).
Created: 22 Dec 2022, 5:11 p.m. | Last Modified: 22 Dec 2022, 5:11 p.m.

Panel Version: 0.24

Created: 22 Dec 2022, 5:11 p.m.
Last Modified: 22 Dec 2022, 5:11 p.m.
Panel version: 0.24

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

Developmental and epileptic encephalopathy 13, OMIM: 614558
developmental and epileptic encephalopathy, 13, MONDO:0013801
Seizures, benign familial infantile, 5, OMIM:617080
seizures, benign familial infantile, 5, MONDO:0014903

OMIM

600702

Clinvar variants

Variants in SCN8A

Penetrance

None

Publications

Panels with this gene