Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SCN8A

SCN8A (sodium voltage-gated channel alpha subunit 8)
EnsemblGeneIds (GRCh38): ENSG00000196876
EnsemblGeneIds (GRCh37): ENSG00000196876
OMIM: 600702, Gene2Phenotype
SCN8A is in 14 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A heterozygous duplication involving SCN8A was identified in an individual with hearing impairment, hypermobility, intellectual disability, ventricular septal defect and craniosynostosis (c.3924dup; p.Arg1309Thrfs*3) (PMID:34429528).
Sources: Literature
Created: 23 Jul 2023, 6:05 p.m. | Last Modified: 23 Jul 2023, 6:05 p.m.

Panel Version: 4.156

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 6:05 p.m.
Last Modified: 23 Jul 2023, 6:05 p.m.
Panel version: 4.156

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

craniosynostosis, MONDO:0015469

OMIM

600702

Clinvar variants

Variants in SCN8A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SCN8A was added gene: SCN8A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 34429528; 36980886 Phenotypes for gene: SCN8A were set to craniosynostosis, MONDO:0015469 Review for gene: SCN8A was set to RED

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: SCN8A