Brain channelopathy
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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Added to the gene list as hypereklepsia is a channelopathy disorder
Created: 21 Feb 2017, 5:11 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
614618 HYPEREKPLEXIA 3

Publications

16751771

Created: 17 Jan 2017, 2:01 p.m.

Panel version: 0.30

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Hyperekplexia 3, 614618

OMIM

604159

Clinvar variants

Variants in SLC6A5

Penetrance

Complete

Publications

16751771

Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618

9 Jan 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC6A5 were set to 16751771;

21 Feb 2017, Gel status: 4