Epileptic encephalopathy
Gene: SLC6A1EnsemblGeneIds (GRCh38): ENSG00000157103
EnsemblGeneIds (GRCh37): ENSG00000157103
OMIM: 137165, Gene2Phenotype
SLC6A1 is in 4 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
-
- Expert Review Green
- OMIM
- 137165
- Clinvar variants
- Variants in SLC6A1
- Penetrance
- Complete
- Publications
-
- Carvill et al (2015) Am J Hum Genet 96(5): 808-15
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC6A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC6A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SLC6A1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Manju Kurian (UCL-Institute of Child Health)SLC6A1 was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)SLC6A1 was added to Epileptic encephalopathypanel. Sources: Expert Review