Early onset or syndromic epilepsy
Gene: SLC2A1
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
AD & AR GLUT1 deficiency syndrome, AD stomatin-deficient cryohydrocytosis & AD generalsied idiopathic epilepsy all of these have epilepsy as a feature of disease. Also AD Dystonia type 9 - of which seizures are sometimes observed.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dystonia 9,601042; GLUT1 deficiency syndrome 1, infantile onset, severe,606777; GLUT1 deficiency syndrome 2, childhood onset,612126; Stomatin-deficient cryohydrocytosis with neurologic defects,608885; {Epilepsy, idiopathic generalized, susceptibility to, 12},614847
Publications
Comment on mode of inheritance: GLUT1 deficiency syndrome 1, infantile onset, severe 606777 can be mono or biallelic, the other phenotypes associated with variants in the SLC2A1 gene are all monoallelicCreated: 4 Apr 2018, 3:49 p.m.
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 list classification: okCreated: 8 May 2016, 7:03 p.m.
Added the tag 'treatable' as a ketogenic diet can help ameloriate symptoms (PMID: 29303961).Created: 19 Aug 2019, 9:58 a.m. | Last Modified: 19 Aug 2019, 9:58 a.m.
Panel Version: 1.254
Comment on mode of inheritance: Confirmed with reviewer that both is relevant (OMIM).Created: 29 Jan 2016, 5:23 p.m.
Publications
Tag treatable tag was added to gene: SLC2A1.
Source Wessex and West Midlands GLH was added to SLC2A1.
Source NHS GMS was added to SLC2A1.
Ellen McDonagh: Comment on mode of inheritance
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SLC2A1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to SLC2A1. Panel: Genetic Epilepsy Syndromes
Mode of inheritance for SLC2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for SLC2A1 were set to Dystonia 9 601042 AD; GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR; GLUT1 deficiency syndrome 2, childhood onset 612126 AD; Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD; {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Publications for SLC2A1 were set to 22282645; 20574033; 21832227
SLC2A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
SLC2A1 was created by Sarah Leigh