Genetic epilepsy syndromesGene: SLC6A5
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: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment when marking as ready: The phenotype Hyperekplexia 3, 614618 includes exaggerated startle response to tactile or acoustic stimuli, manifesting as non-epileptic seizures. This phenotype is therefore not relevant to the Genetic epilepsy syndromes panel.
Created: 8 Nov 2018, 2:09 p.m.
A mimic for seizures.
Created: 21 Aug 2018, 10 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperekplexia 3, MIM#614618
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SLC6A5.
Source NHS GMS was added to SLC6A5.
Zornitza Stark: A mimic for seizures.
Gene: slc6a5 has been classified as Red List (Low Evidence).
Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, 614618
Mode of inheritance for gene: SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SLC6A5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
SLC6A5 was created by Sarah Leigh