Brain Channelopathies
Gene: SLC6A5

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, especially for bi-allelic variants, including animal model. Only two reports of mono-allelic variants, so treat with caution (Amber for mono-allelic).
Created: 30 Dec 2020, 1:24 a.m. | Last Modified: 30 Dec 2020, 1:24 a.m.

Panel Version: 0.74

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 3, MIM# 614618

Publications

Created: 30 Dec 2020, 1:24 a.m.
Last Modified: 30 Dec 2020, 1:24 a.m.
Panel version: 0.74

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hyperekplexia 3, MIM# 614618

OMIM

604159

Clinvar variants

Variants in SLC6A5

Penetrance

None

Publications

Panels with this gene