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Genetic epilepsy syndromes

Gene: SLC6A8

Green List (high evidence)

SLC6A8 (solute carrier family 6 member 8)
EnsemblGeneIds (GRCh38): ENSG00000130821
EnsemblGeneIds (GRCh37): ENSG00000130821
OMIM: 300036, Gene2Phenotype
SLC6A8 is in 9 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: Green.
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)

Green List (high evidence)

XLR Cerebellar creatine defic syndrome 1 - characterised by mental retardation, severe speech delay, behavioural abnormalities and seizures. Bizzi et al, 2002 - child with severe neurological disabilities incl seizures. Hahn et al, 2002 - 5 male sin a sibship of 10 with MR and seizures. Schiaffino et al, 2005 - 21 month old boy - EEG showed slow diffuse hypersynchronisms with abnormal multifocal spikes. Battini et al, 2007 - 9.5 year old Italian boy - seizures reported. Comeaux et al, 2013 - 22 patients with confirmed deleterious mutations in SLC6A8 gene who had clinical information - 27% had seizures. Van de Kamp et al, 2013 - retrospective analysis from 85 families - many previoulsy reported - 59% had seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Cerebral creatine deficiency syndrome 1, 300352

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported
in at least four unrelated male cases in which seizures are a phenotypic feature.
Created: 3 Dec 2018, 2:38 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype.
Created: 21 Aug 2018, 11:15 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Cerebral creatine deficiency syndrome 1, MIM#300352

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)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert
Phenotypes
  • Cerebral creatine deficiency syndrome 1 300352
OMIM
300036
Clinvar variants
Variants in SLC6A8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC6A8.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC6A8.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc6a8 has been classified as Green List (High Evidence).

3 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc6a8 has been classified as Amber List (Moderate Evidence).

3 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC6A8 were set to

3 Dec 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1 300352

3 Dec 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to SLC6A8. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC6A8. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC6A8 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SLC6A8 was created by Sarah Leigh