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Early onset or syndromic epilepsy v1.191 ST3GAL5 Rebecca Foulger Source Wessex and West Midlands GLH was added to ST3GAL5.
Early onset or syndromic epilepsy v1.190 ST3GAL5 Rebecca Foulger Source NHS GMS was added to ST3GAL5.
Early onset or syndromic epilepsy v1.189 ST3GAL5 Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.573 ST3GAL5 Sarah Leigh Publications for gene: ST3GAL5 were set to
Early onset or syndromic epilepsy v0.572 ST3GAL5 Sarah Leigh Mode of inheritance for gene: ST3GAL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Early onset or syndromic epilepsy v0.570 ST3GAL5 Sarah Leigh Classified gene: ST3GAL5 as Green List (high evidence)
Early onset or syndromic epilepsy v0.570 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Marked gene: ST3GAL5 as ready
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.
Early onset or syndromic epilepsy v0.505 ST3GAL5 Sarah Leigh Gene: st3gal5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy ST3GAL5 Zornitza Stark reviewed gene: ST3GAL5
Early onset or syndromic epilepsy ST3GAL5 Sarah Leigh Added gene to panel