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Early onset or syndromic epilepsy v2.328 KCNA2 Sarah Leigh Added comment: Comment on mode of pathogenicity: Both dominant negative variants that result in LOF effect (RCV000170511, rs786205231) and GOF variants (rs786205231, rs786205232) have been associated with Developmental and epileptic encephalopathy 32 OMIM:616366
Early onset or syndromic epilepsy v2.328 KCNA2 Sarah Leigh Mode of pathogenicity for gene: KCNA2 was changed from None to None
Early onset or syndromic epilepsy v2.327 KCNA2 Sarah Leigh Phenotypes for gene: KCNA2 were changed from Epileptic encephalopathy, early infantile, 32; EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 32 OMIM:616366; developmental and epileptic encephalopathy, 32 MONDO:0014607
Early onset or syndromic epilepsy v2.326 KCNA2 Sarah Leigh Publications for gene: KCNA2 were set to Syrbe et al (2015) Nat Genet 47(4): 393-9
Early onset or syndromic epilepsy v1.191 KCNA2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNA2.
Early onset or syndromic epilepsy v1.190 KCNA2 Rebecca Foulger Source NHS GMS was added to KCNA2.
Early onset or syndromic epilepsy v1.189 KCNA2 Rebecca Foulger reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 KCNA2 Tracy Lester reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25751627, 28032718 ; Phenotypes: Epileptic encephalopathy,616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy KCNA2 Sarah Leigh Added gene to panel