Malformations of cortical development

Gene: SCN3A

No list

SCN3A (sodium voltage-gated channel alpha subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000153253
EnsemblGeneIds (GRCh37): ENSG00000153253
OMIM: 182391, Gene2Phenotype
SCN3A is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017
Sources: Expert list
Created: 28 Aug 2020, 2:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria; malformations of cortical development; epilepsy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Polymicrogyria
  • malformations of cortical development
  • epilepsy
OMIM
182391
Clinvar variants
Variants in SCN3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SCN3A was added gene: SCN3A was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN3A were set to 32515017; 30146301 Phenotypes for gene: SCN3A were set to Polymicrogyria; malformations of cortical development; epilepsy Review for gene: SCN3A was set to GREEN gene: SCN3A was marked as current diagnostic