06 Aug 2019
Early onset or syndromic epilepsy v1.191
RFT1
Rebecca Foulger Source Wessex and West Midlands GLH was added to RFT1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
RFT1
Rebecca Foulger Source NHS GMS was added to RFT1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
RFT1
Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
26 Nov 2018
Early onset or syndromic epilepsy v0.1159
RFT1
Sarah Leigh Marked gene: RFT1 as ready
26 Nov 2018
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.
26 Nov 2018
Early onset or syndromic epilepsy v0.1159
RFT1
Sarah Leigh Gene: rft1 has been classified as Green List (High Evidence).
26 Nov 2018
Early onset or syndromic epilepsy v0.1159
RFT1
Sarah Leigh Classified gene: RFT1 as Green List (high evidence)
26 Nov 2018
Early onset or syndromic epilepsy v0.1159
RFT1
Sarah Leigh Gene: rft1 has been classified as Green List (High Evidence).
26 Nov 2018
Early onset or syndromic epilepsy v0.1158
RFT1
Sarah Leigh Mode of inheritance for gene: RFT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
26 Nov 2018
Early onset or syndromic epilepsy v0.1157
RFT1
Sarah Leigh Publications for gene: RFT1 were set to
26 Nov 2018
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
20 Aug 2018
Early onset or syndromic epilepsy
RFT1
Zornitza Stark reviewed gene: RFT1
25 Jun 2018
Early onset or syndromic epilepsy
RFT1
Sarah Leigh Added gene to panel