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Epileptic encephalopathy

Gene: SLC2A1

Green List (high evidence)

SLC2A1 (solute carrier family 2 member 1)
EnsemblGeneIds (GRCh38): ENSG00000117394
EnsemblGeneIds (GRCh37): ENSG00000117394
OMIM: 138140, Gene2Phenotype
SLC2A1 is in 22 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

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

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

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

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

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

Phenotypes
Dystonia 9

Publications

  • Weber et al (2011) Neurology 77: 959-964

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed with reviewer that both is relevant (OMIM).
Created: 29 Jan 2016, 5:23 p.m.

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC2A1 were set to Dystonia 9

29 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC2A1 were set to Weber et al (2011) Neurology 77: 959-964

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A1 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC2A1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert