Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Genetic Epilepsy v1.339 RPS6KC1 Zornitza Stark Phenotypes for gene: RPS6KC1 were changed from Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related to Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460
Genetic Epilepsy v1.338 RPS6KC1 Zornitza Stark reviewed gene: RPS6KC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v1.273 RPS6KC1 Zornitza Stark Marked gene: RPS6KC1 as ready
Genetic Epilepsy v1.273 RPS6KC1 Zornitza Stark Gene: rps6kc1 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.272 Rylee Peters Copied gene RPS6KC1 from panel Mendeliome
Genetic Epilepsy v1.272 RPS6KC1 Rylee Peters gene: RPS6KC1 was added
gene: RPS6KC1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPS6KC1 were set to 41130203
Phenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related