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  2. White matter disorders and cerebral calcification - narrow panel
  3. SCN2A
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White matter disorders and cerebral calcification - narrow panel

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 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SCN2A was added gene: SCN2A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red 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