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| Brugada syndrome and cardiac sodium channel disease v2.30 | CACNA2D1 | Ivone Leong Phenotypes for gene: CACNA2D1 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.38 | CACNA2D1 | Rebecca Whittington commented on gene: CACNA2D1: No links to phenotypes on OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.37 | CACNA2D1 | Rebecca Whittington commented on gene: CACNA2D1: 3 / 4 variants reported in this gene in the paper have frequency / high frequency on GnomAD and mixed BI. No strong evidence presented in PMID 20817017. PMID:25527503. PMID:21383000. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.36 | CACNA2D1 | Rebecca Whittington reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.23 | CACNA2D1 |
Ellen McDonagh Source South West GLH was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown |
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| Brugada syndrome and cardiac sodium channel disease v1.22 | CACNA2D1 | Ellen McDonagh edited their review of gene: CACNA2D1: 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/10147; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.21 | CACNA2D1 | Ellen McDonagh reviewed gene: CACNA2D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.20 | CACNA2D1 | Ellen McDonagh Source London South GLH was added to CACNA2D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.19 | CACNA2D1 | James Eden reviewed gene: CACNA2D1: Rating: RED; Mode of pathogenicity: ; Publications: 20817017, 17224476, 27761167; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.18 | CACNA2D1 |
Ellen McDonagh Source North West GLH was added to CACNA2D1. Mode of inheritance for gene CACNA2D1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene CACNA2D1 were changed from to 17224476; 20817017; 27761167 |
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