06 Aug 2019
Early onset or syndromic epilepsy v1.191
SLC6A5
Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A5.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SLC6A5
Rebecca Foulger Source NHS GMS was added to SLC6A5.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SLC6A5
Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
SLC6A5
Tracy Lester reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 16751771, 16884688 ; Phenotypes: Hyperekplexia 3, 614618 ; Mode of inheritance: Unknown
08 Nov 2018
Early onset or syndromic epilepsy v0.663
SLC6A5
Sarah Leigh Marked gene: SLC6A5 as ready
08 Nov 2018
Early onset or syndromic epilepsy v0.663
SLC6A5
Sarah Leigh Added comment: 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.
08 Nov 2018
Early onset or syndromic epilepsy v0.663
SLC6A5
Sarah Leigh Gene: slc6a5 has been classified as Red List (Low Evidence).
08 Nov 2018
Early onset or syndromic epilepsy v0.663
SLC6A5
Sarah Leigh Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, 614618
08 Nov 2018
Early onset or syndromic epilepsy v0.662
SLC6A5
Sarah Leigh Mode of inheritance for gene: SLC6A5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
21 Aug 2018
Early onset or syndromic epilepsy
SLC6A5
Zornitza Stark reviewed gene: SLC6A5
04 Apr 2018
Early onset or syndromic epilepsy
SLC6A5
Sarah Leigh Added gene to panel