Alternating Hemiplegia and Hemiplegic Migraine
Gene: SLC1A3

SLC1A3 (solute carrier family 1 member 3)
EnsemblGeneIds (GRCh38): ENSG00000079215
EnsemblGeneIds (GRCh37): ENSG00000079215
OMIM: 600111, Gene2Phenotype
SLC1A3 is in 12 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

3 unrelated cases/families reported with alternating hemiplegia and/or hemiplegic migraine as a feature of the condition, and supporting functional assays demonstrating that variants reduced capacity for glutamate uptake
Created: 4 Jun 2021, 5:10 a.m. | Last Modified: 4 Jun 2021, 5:10 a.m.

Panel Version: 0.46

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemiplegic migraine

Publications

Created: 4 Jun 2021, 5:10 a.m.
Last Modified: 4 Jun 2021, 5:10 a.m.
Panel version: 0.46

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene are principally associated with episodic ataxia, but at least two families reported with hemiplegic migraine.
Created: 8 Oct 2020, 10:49 a.m. | Last Modified: 8 Oct 2020, 10:49 a.m.

Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemiplegic migraine

Publications

Created: 8 Oct 2020, 10:49 a.m.
Last Modified: 8 Oct 2020, 10:49 a.m.
Panel version: 0.38

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hemiplegic migraine

OMIM

600111

Clinvar variants

Variants in SLC1A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc1a3 has been classified as Green List (High Evidence).

8 Oct 2020, Gel status: 2