Intracerebral calcification disorders

Gene: SCN2A

Red List (low evidence)

SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 10 panels

1 review

Anna de Burca (Genomics England Curator)

Red List (low evidence)

Variants in SCN2A are associated with a range of phenotypes from benign infantile seizures to early infantile epileptic encephalopathy. Intracerebral calcification has been noted in one case in the literature (PMID:24579881) and I have encountered a second case in my clinical practice.
Sources: Literature
Created: 18 Sep 2018, 9:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Epileptic encephalopathy, early infantile, 11
  • Seizures, benign familial infantile, 3
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2018, Gel status: 1

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

Anna de Burca (Genomics England Curator)

gene: SCN2A was added gene: SCN2A was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to PMID:24579881 Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3 Review for gene: SCN2A was set to RED