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  3. SCN3A
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Polymicrogyria and Schizencephaly

Gene: SCN3A

Green List (high evidence)
SCN3A (sodium voltage-gated channel alpha subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000153253
EnsemblGeneIds (GRCh37): ENSG00000153253
OMIM: 182391, Gene2Phenotype
SCN3A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; 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
Created: 10 Aug 2020, 1:31 a.m. | Last Modified: 10 Aug 2020, 1:31 a.m.
Panel Version: 0.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria; malformations of cortical development; epilepsy

Publications

Created: 10 Aug 2020, 1:26 a.m.
Last Modified: 10 Aug 2020, 1:26 a.m.
Panel version: 0.91

Chloe Stutterd (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 9 Aug 2020, 11:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polymicrogyria; epileptic encephalopathy

Publications

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

Created: 9 Aug 2020, 11:30 p.m.

Panel version: 0.90

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Polymicrogyria
  • epileptic encephalopathy
OMIM
182391
Clinvar variants
Variants in SCN3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN3A were set to 30146301

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn3a has been classified as Green List (High Evidence).

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn3a has been classified as Green List (High Evidence).

9 Aug 2020, Gel status: 0

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

Chloe Stutterd (Victorian Clinical Genetics Services)

gene: SCN3A was added gene: SCN3A was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN3A were set to 30146301 Phenotypes for gene: SCN3A were set to Polymicrogyria; epileptic encephalopathy Review for gene: SCN3A was set to GREEN gene: SCN3A was marked as current diagnostic