Early onset or syndromic epilepsy

Gene: SLC2A1

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

Green List (high evidence)

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

• 20129935

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 monoallelic

Created: 4 Apr 2018, 3:49 p.m.

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

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

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

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

Comment on list classification: ok

Created: 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

• 29303961