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Genetic epilepsy syndromes

Gene: SLC6A5

Red List (low evidence)

SLC6A5 (solute carrier family 6 member 5)
EnsemblGeneIds (GRCh38): ENSG00000165970
EnsemblGeneIds (GRCh37): ENSG00000165970
OMIM: 604159, Gene2Phenotype
SLC6A5 is in 11 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

AD & AR Hyperekplexia. Seizures don't seem to be a feature.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
Hyperekplexia 3, 614618

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: The phenotype Hyperekplexia 3, 614618 includes exaggerated startle response to tactile or acoustic stimuli, manifesting as non-epileptic seizures. This phenotype is therefore not relevant to the Genetic epilepsy syndromes panel.
Created: 8 Nov 2018, 2:09 p.m.

Zornitza Stark (Australian Genomics)

I don't know

A mimic for seizures.
Created: 21 Aug 2018, 10 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 3, MIM#614618

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC6A5.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC6A5.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: A mimic for seizures.

8 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc6a5 has been classified as Red List (Low Evidence).

8 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

8 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC6A5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SLC6A5 was created by Sarah Leigh