Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Early onset or syndromic epilepsy v1.191 SLC6A8 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A8.
Early onset or syndromic epilepsy v1.190 SLC6A8 Rebecca Foulger Source NHS GMS was added to SLC6A8.
Early onset or syndromic epilepsy v1.189 SLC6A8 Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 SLC6A8 Tracy Lester reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11898126, 26951207; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v0.1331 SLC6A8 Sarah Leigh Classified gene: SLC6A8 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1331 SLC6A8 Sarah Leigh Gene: slc6a8 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1330 SLC6A8 Sarah Leigh Marked gene: SLC6A8 as ready
Early onset or syndromic epilepsy v0.1330 SLC6A8 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported
in at least four unrelated male cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1330 SLC6A8 Sarah Leigh Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1330 SLC6A8 Sarah Leigh Publications for gene: SLC6A8 were set to
Early onset or syndromic epilepsy v0.1329 SLC6A8 Sarah Leigh Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1 300352
Early onset or syndromic epilepsy v0.1328 SLC6A8 Sarah Leigh Mode of inheritance for gene: SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy SLC6A8 Zornitza Stark reviewed gene: SLC6A8
Early onset or syndromic epilepsy SLC6A8 Sarah Leigh Added gene to panel