| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Long QT syndrome v2.32 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 (611875); Timothy syndrome (601005) to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.44 | CACNA1C | Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.31 | CACNA1C | Ivone Leong Publications for gene: CACNA1C were set to 18250309 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.26 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.25 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Literature and functional evidence for this gene. PMID: 25633834. PMID:30023270. PMID:27390944. PMID 24728418. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.24 | CACNA1C | Rebecca Whittington reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.23 | CACNA1C | Matthew Edwards reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 18250309, 25633834, 24728418; Phenotypes: Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.16 | CACNA1C | Ellen McDonagh Source South West GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.15 | CACNA1C | Ellen McDonagh edited their review of gene: CACNA1C: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.14 | CACNA1C | Ellen McDonagh Source London South GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.13 | CACNA1C | James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 18250309; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT syndrome v1.12 | CACNA1C |
Ellen McDonagh Source North West GLH was added to CACNA1C. Added phenotypes Brugada syndrome 3 (611875); Timothy syndrome (601005) for gene: CACNA1C Publications for gene CACNA1C were changed from 15454078 to 18250309 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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