Epileptic encephalopathy
Gene: SLC2A1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia 9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed with reviewer that both is relevant (OMIM).Created: 29 Jan 2016, 5:23 p.m.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC2A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for SLC2A1 were set to Dystonia 9
Publications for SLC2A1 were set to Weber et al (2011) Neurology 77: 959-964
The Gel status was updated for this whole panel
SLC2A1 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
Model of inheritance for gene SLC2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC2A1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
SLC2A1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert