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Intellectual disability v3.1495 CSNK2B Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability with or without myoclonic epilepsy
Intellectual disability v3.1495 CSNK2B Sarah Leigh Phenotypes for gene: CSNK2B were changed from Intellectual disability with or without myoclonic epilepsy to Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732; Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889
Intellectual disability v3.1494 CSNK2B Sarah Leigh Publications for gene: CSNK2B were set to 28585349; 28762608; 30655572
Intellectual disability v2.904 CSNK2B Rebecca Foulger Deleted their comment
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 v2.903 CSNK2B Rebecca Foulger Publications for gene: CSNK2B were set to 28585349; 28762608
Intellectual disability v2.549 CSNK2B Rebecca Foulger Phenotypes for gene: CSNK2B were changed from to Intellectual disability with or without myoclonic epilepsy
Intellectual disability v2.548 CSNK2B Rebecca Foulger Publications for gene: CSNK2B were set to 28585349, 28762608
Intellectual disability v2.547 CSNK2B Rebecca Foulger Classified gene: CSNK2B as Green List (high evidence)
Intellectual disability v2.547 CSNK2B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green: As summarised by Zornitza, three unrelated patients reported in the literature (one in PMID:28762608 and two in PMID:28585349) with intellectual disability and de novo variants in CSNK2B (splice variant and a frameshift truncating variant). Two of the patients also had monoclonic epilepsy.
Intellectual disability v2.547 CSNK2B Rebecca Foulger Gene: csnk2b has been classified as Green List (High Evidence).
Intellectual disability v2.546 CSNK2B Rebecca Foulger Mode of inheritance for gene: CSNK2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.468 CSNK2B Louise Daugherty Source Victorian Clinical Genetics Services was added to CSNK2B.
Intellectual disability CSNK2B Zornitza Stark Added gene to panel