06 Aug 2019
Early onset or syndromic epilepsy v1.191
ST3GAL5
Rebecca Foulger Source Wessex and West Midlands GLH was added to ST3GAL5.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
ST3GAL5
Rebecca Foulger Source NHS GMS was added to ST3GAL5.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
ST3GAL5
Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
ST3GAL5
Tracy Lester reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15502825, 22990144, 24026681 ; Phenotypes: Salt and pepper developmental regression syndrome, 609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Nov 2018
Early onset or syndromic epilepsy v0.573
ST3GAL5
Sarah Leigh Publications for gene: ST3GAL5 were set to
07 Nov 2018
Early onset or syndromic epilepsy v0.572
ST3GAL5
Sarah Leigh Mode of inheritance for gene: ST3GAL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
07 Nov 2018
Early onset or syndromic epilepsy v0.571
ST3GAL5
Sarah Leigh Phenotypes for gene: ST3GAL5 were changed from to Salt and pepper developmental regression syndrome 609056
07 Nov 2018
Early onset or syndromic epilepsy v0.570
ST3GAL5
Sarah Leigh Classified gene: ST3GAL5 as Green List (high evidence)
07 Nov 2018
Early onset or syndromic epilepsy v0.570
ST3GAL5
Sarah Leigh Gene: st3gal5 has been classified as Green List (High Evidence).
16 Oct 2018
Early onset or syndromic epilepsy v0.505
ST3GAL5
Sarah Leigh Marked gene: ST3GAL5 as ready
16 Oct 2018
Early onset or syndromic epilepsy v0.505
ST3GAL5
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 4 unrelated cases.
16 Oct 2018
Early onset or syndromic epilepsy v0.505
ST3GAL5
Sarah Leigh Gene: st3gal5 has been classified as Amber List (Moderate Evidence).
22 Aug 2018
Early onset or syndromic epilepsy
ST3GAL5
Zornitza Stark reviewed gene: ST3GAL5
25 Jun 2018
Early onset or syndromic epilepsy
ST3GAL5
Sarah Leigh Added gene to panel