Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Brugada syndrome and cardiac sodium channel disease v2.16 KCND3 Ivone Leong Phenotypes for gene: KCND3 were changed from Brugada/Brugada like syndrome to Brugada syndrome 9, OMIM:616399
Brugada syndrome and cardiac sodium channel disease v1.38 KCND3 Rebecca Whittington commented on gene: KCND3: Brugada syndrome 9 (OMIM 616399), Spinocerebellar ataxia 19 (OMIM 607346).
Brugada syndrome and cardiac sodium channel disease v1.37 KCND3 Rebecca Whittington commented on gene: KCND3: Gene mainly assoc with ataxia /intellectual disability. NO strong evidence in the Giudicessi paper - both variants described do not have strong BI and some frequency on GnomAD. PMID:21349352. PMID:22840528. https://www.ncbi.nlm.nih.gov/pubmed/22284586?dopt=Abstract. https://pdfs.semanticscholar.org/496b/e70141f03f188a0215693739efed9ae36573.pdf.
Brugada syndrome and cardiac sodium channel disease v1.36 KCND3 Rebecca Whittington reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.23 KCND3 Ellen McDonagh Source South West GLH was added to KCND3.
Mode of inheritance for gene KCND3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brugada syndrome and cardiac sodium channel disease v1.22 KCND3 Ellen McDonagh edited their review of gene: KCND3: Added comment: This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10151; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.21 KCND3 Ellen McDonagh reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.20 KCND3 Ellen McDonagh Source London South GLH was added to KCND3.