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Early onset or syndromic epilepsy v1.191 RFT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RFT1.
Early onset or syndromic epilepsy v1.190 RFT1 Rebecca Foulger Source NHS GMS was added to RFT1.
Early onset or syndromic epilepsy v1.189 RFT1 Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RFT1 Tracy Lester reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19701946; Phenotypes: Congenital disorder of glycosylation type In, 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Marked gene: RFT1 as ready
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in at least 6 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Gene: rft1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Classified gene: RFT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1159 RFT1 Sarah Leigh Gene: rft1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1158 RFT1 Sarah Leigh Mode of inheritance for gene: RFT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1157 RFT1 Sarah Leigh Publications for gene: RFT1 were set to
Early onset or syndromic epilepsy v0.1155 RFT1 Sarah Leigh Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, 612015
Early onset or syndromic epilepsy RFT1 Zornitza Stark reviewed gene: RFT1
Early onset or syndromic epilepsy RFT1 Sarah Leigh Added gene to panel