Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SCN2A

No list

SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia.
Sources: Expert list
Created: 12 Sep 2020, 7:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 11, MIM# 613721

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
  • Epileptic encephalopathy, early infantile, 11, MIM# 613721
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SCN2A was added gene: SCN2A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 31924505; 32893078; 31904126 Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11, MIM# 613721 Review for gene: SCN2A was set to GREEN gene: SCN2A was marked as current diagnostic