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Early onset or syndromic epilepsy v1.191 SLC6A5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A5.
Early onset or syndromic epilepsy v1.190 SLC6A5 Rebecca Foulger Source NHS GMS was added to SLC6A5.
Early onset or syndromic epilepsy v1.189 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Marked gene: SLC6A5 as ready
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.
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Gene: slc6a5 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.663 SLC6A5 Sarah Leigh Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, 614618
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
Early onset or syndromic epilepsy SLC6A5 Zornitza Stark reviewed gene: SLC6A5
Early onset or syndromic epilepsy SLC6A5 Sarah Leigh Added gene to panel