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Genetic epilepsy syndromes

Gene: SLC5A6

Amber List (moderate evidence)

SLC5A6 (solute carrier family 5 member 6)
EnsemblGeneIds (GRCh38): ENSG00000138074
EnsemblGeneIds (GRCh37): ENSG00000138074
OMIM: 604024, Gene2Phenotype
SLC5A6 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Watchlist tag was added to take account of the potential therapeutic options of this cause of seizures.
Created: 8 Jul 2020, 9:40 a.m. | Last Modified: 8 Jul 2020, 9:40 a.m.
Panel Version: 2.113
Comment on list classification: Not associated with phenotype in OMIM and as possible Gen2Phen gene for SLC5A6-related Neurodevelopmental Disorder. At least 4 variants published in two unrelated famililies (3 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies. One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459).
Created: 2 Jun 2020, 5:31 p.m. | Last Modified: 2 Jun 2020, 5:31 p.m.
Panel Version: 2.85

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two unrelated families reported, functional data and some evidence of response to treatment.
Sources: Expert list
Created: 25 Jan 2020, 6:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; epilepsy; neurodegeneration

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • SLC5A6-related Neurodevelopmental Disorder
Tags
watchlist
OMIM
604024
Clinvar variants
Variants in SLC5A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: SLC5A6.

2 Jun 2020, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC5A6 were set to 31754459; 27904971

2 Jun 2020, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC5A6 were changed from Developmental delay; epilepsy; neurodegeneration to SLC5A6-related Neurodevelopmental Disorder

2 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc5a6 has been classified as Amber List (Moderate Evidence).

25 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC5A6 was added gene: SLC5A6 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 31754459; 27904971 Phenotypes for gene: SLC5A6 were set to Developmental delay; epilepsy; neurodegeneration Review for gene: SLC5A6 was set to GREEN gene: SLC5A6 was marked as current diagnostic