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| Short QT syndrome v2.14 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from 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 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; Short QT; CACNA1C-related disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.13 | CACNA1C | Eleanor Williams Phenotypes for gene: CACNA1C were changed from Brugada syndrome 3 611875; syncope; brugada syndrome; scd; Brugada syndrome 3 (611875); short qt; 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.12 | CACNA1C | Ivone Leong Tag for-review was removed from gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.12 | CACNA1C | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.12 | CACNA1C | Ivone Leong commented on gene: CACNA1C: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.3 | CACNA1C | Ivone Leong Tag for-review tag was added to gene: CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v2.3 | CACNA1C | Zornitza Stark reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | CACNA1C | Ivone Leong reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNA1C | Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.16 | CACNA1C | Ivone Leong Publications for gene: CACNA1C were set to 24291113; 16301704 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Timothy syndrome (601005); Brugada syndrome 3 (611875) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | CACNA1C | Rebecca Whittington commented on gene: CACNA1C: Not associated with SQT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | CACNA1C | Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | CACNA1C | Ellen McDonagh Source South West GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | CACNA1C | Ellen McDonagh reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | CACNA1C | Ellen McDonagh Source London South GLH was added to CACNA1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | CACNA1C | James Eden reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24291113, 16301704; Phenotypes: Brugada syndrome 3 (611875), Timothy syndrome (601005); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | 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 17224476; 28427417; 28490369; 29759541; 29697308 to 24291113; 16301704 |
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| Short QT syndrome v1.2 | CACNA1C | Oxford Medical Genetics Laboratory reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.23 | CACNA1C | Louise Daugherty Added comment: Comment on publications: removed inclusion of PMID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.23 | CACNA1C | Louise Daugherty Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | CACNA1C | Sarah Leigh reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30027834, 30279520; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | CACNA1C |
Sarah Leigh Source Emory Genetics Laboratory was added to CACNA1C. Source Long QT syndrome (Version 1.5) was added to CACNA1C. Source Expert Review Green was added to CACNA1C. Source UKGTN was added to CACNA1C. Source Brugada syndrome (Version 1.7) was added to CACNA1C. Added phenotypes Brugada syndrome 3 611875 for gene: CACNA1C Rating Changed from No List (delete) to Green List (high evidence) |
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| Short QT syndrome v0.1 | CACNA1C |
Jules Hancox gene: CACNA1C was added gene: CACNA1C was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to PMID: 17224476; 28427417; 28490369; 29759541; 29697308 Phenotypes for gene: CACNA1C were set to short qt; brugada syndrome; syncope; scd Review for gene: CACNA1C was set to GREEN Added comment: Encodes alpha subunit of L-type Ca channels. Mutations are loss of function and lead to a mixed short QT/Brugada phenotype Sources: Literature |
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