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Genetic epilepsy syndromes

Gene: SLC6A1

Green List (high evidence)

SLC6A1 (solute carrier family 6 member 1)
EnsemblGeneIds (GRCh38): ENSG00000157103
EnsemblGeneIds (GRCh37): ENSG00000157103
OMIM: 137165, Gene2Phenotype
SLC6A1 is in 5 panels

7 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)

AD myoclonic-atonic epilepsy - onset of absence and myoclonic seizures in early childhood. Carvill et al, 2015 - 8 patients including a mother and daughter with early onset myoclonic-atonic epilepsy following early dev delay. 6 diff het mutations identified in SLC6A1. I additional patient had a het del of 3p25 including part of the SLC6A1 gene. 4 of the mutations and the deletion occured de novo. The aff child and mother both had the variant, and 1 ofther childs unaff mother hadthe variant - however she was a somatic mosaic. Functional studies not performed. Johannesen et al, 2018, 24 SLC6A1 probands and 6 aff family members, and 4 previously published cases were included. 31/34 cases had epilepsy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myoclonic-atonic epilepsy, 616421

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM. Not on imprinted gene list.
Created: 29 Jan 2016, 2:25 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myoclonic-atonic epilepsy, 616421
OMIM
137165
Clinvar variants
Variants in SLC6A1
Penetrance
None
Publications
  • 25865495
  • Carvill et al (2015) Am J Hum Genet 96(5): 808-15
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, 616421

28 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC6A1 were set to Carvill et al (2015) Am J Hum Genet 96(5): 808-15

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC6A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC6A1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC6A1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC6A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SLC6A1 was created by Sarah Leigh