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  2. Alternating Hemiplegia and Hemiplegic Migraine
  3. SCN2A
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Alternating Hemiplegia and Hemiplegic Migraine

Gene: SCN2A

Green List (high evidence)
SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 11 panels

1 review

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- 1x in-frame del and 2x missense variants identified in three individuals with typical alternating
hemiplegia of childhood (2x confirmed de novo, 1x unknown inheritance)
- Loss of function demonstrated by functional studies of all three variants (mutant transcripts transfected into HEK293T cells showed either complete loss of function or altered electrophysiological properties)
Sources: Literature
Created: 4 Jan 2024, 1:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related

Publications

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

Created: 4 Jan 2024, 1:55 a.m.

Panel version: 0.54

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn2a has been classified as Green List (High Evidence).

4 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn2a has been classified as Green List (High Evidence).

4 Jan 2024, Gel status: 0

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

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: SCN2A was added gene: SCN2A was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 38097767 Phenotypes for gene: SCN2A were set to Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related Review for gene: SCN2A was set to GREEN gene: SCN2A was marked as current diagnostic