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Intellectual disability v3.1258 CSNK2A1 Arina Puzriakova Phenotypes for gene: CSNK2A1 were changed from Okur-Chung neurodevelopmental syndrome to Okur-Chung neurodevelopmental syndrome, OMIM:617062
Intellectual disability v3.0 CSNK2A1 Louise Daugherty Tag watchlist was removed from gene: CSNK2A1.
Intellectual disability v3.0 CSNK2A1 Louise Daugherty commented on gene: CSNK2A1
Intellectual disability v2.903 CSNK2B Rebecca Foulger commented on gene: CSNK2B: PMID:30655572: Nakashima et al, 2019 describe 4 patients with ID, DD and seizures. Two of the patients had variants in CSNK2B: c.533_534insGT, p.(Pro179Tyrfs*49) in Malaysian Patient 3, and c.494A>G, p.(His165Arg) in Japanese Patient 4. Both had seizures within 2 months of age. Both variants occurred de novo. In each patient, only 1 likely candidate variant was proposed. Functional assays suggested that Pro179Tyrfs*49 mutant protein was produced but showed disrupted interaction with CSNK2A1.
Intellectual disability v2.468 CSNK2A1 Louise Daugherty Source Victorian Clinical Genetics Services was added to CSNK2A1.
Intellectual disability CSNK2A1 BRIDGE consortium edited their review of CSNK2A1
Intellectual disability CSNK2A1 BRIDGE consortium reviewed CSNK2A1
Intellectual disability CSNK2A1 Richard Scott classified CSNK2A1 as green
Intellectual disability CSNK2A1 Richard Scott commented on CSNK2A1
Intellectual disability CSNK2A1 Ellen Thomas added CSNK2A1 to panel
Intellectual disability CSNK2A1 Ellen Thomas reviewed CSNK2A1