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Early onset or syndromic epilepsy v1.191 RMND1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RMND1.
Early onset or syndromic epilepsy v1.190 RMND1 Rebecca Foulger Source NHS GMS was added to RMND1.
Early onset or syndromic epilepsy v1.189 RMND1 Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 RMND1 Tracy Lester reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022098, 27412952 ; Phenotypes: Combined oxidative phosphorylation deficiency, 614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1166 RMND1 Sarah Leigh Marked gene: RMND1 as ready
Early onset or syndromic epilepsy v0.1166 RMND1 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 3 unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1166 RMND1 Sarah Leigh Gene: rmnd1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1166 RMND1 Sarah Leigh Classified gene: RMND1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1166 RMND1 Sarah Leigh Gene: rmnd1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1165 RMND1 Sarah Leigh Publications for gene: RMND1 were set to
Early onset or syndromic epilepsy v0.1161 RMND1 Sarah Leigh Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11, 614922
Early onset or syndromic epilepsy v0.1160 RMND1 Sarah Leigh Mode of inheritance for gene: RMND1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy RMND1 Zornitza Stark reviewed gene: RMND1
Early onset or syndromic epilepsy RMND1 Sarah Leigh Added gene to panel