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| Brugada syndrome and cardiac sodium channel disease v2.10 | CACNA1C | Ivone Leong Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 to Brugada syndrome 3, MONDO:0012742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.38 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.37 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Couple of reports suggesting association with Short QT arrhythmia and Timothy Syndome. One variant which is reported has very high frequency on GnomAD and mixed BI. Another variant has no frequency and mixed BI. (PMID 1722476) Needs Review as not typical Brugada. PMID:20817017. PMID:25184293 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.36 | CACNA1C | Rebecca Whittington reviewed gene: CACNA1C: 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 | CACNA1C |
Ellen McDonagh Source South West GLH was added to CACNA1C. Mode of inheritance for gene CACNA1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Brugada syndrome and cardiac sodium channel disease v1.22 | CACNA1C | Ellen McDonagh edited their review of gene: CACNA1C: 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/10146; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.21 | CACNA1C | Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.20 | CACNA1C | Ellen McDonagh Source London South GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||