| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Short QT syndrome v1.23 | CACNB2 | Ivone Leong edited their review of gene: CACNB2: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | CACNB2 | Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | CACNB2 | Ivone Leong Mode of inheritance for gene: CACNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNB2 | James Eden changed review comment from: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome.; to: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome. Only one patient with Short QT syndrome tested to date in Manchester. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNB2 | James Eden changed review comment from: See figure 3 of Campuzano 2018, gene associated with Short QT syndrome.; to: See table 1/figure 3 of Campuzano 2018, gene associated with Short QT syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNB2 | James Eden reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19862833, 30420954, 16301704; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNB2 | James Eden Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | CACNB2 | Matthew Edwards reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | CACNB2 | Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 611876 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | CACNB2 | Rebecca Whittington commented on gene: CACNB2: 1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | CACNB2 | Rebecca Whittington reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | CACNB2 |
Ellen McDonagh Source South West GLH was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown |
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| Short QT syndrome v1.6 | CACNB2 | Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | CACNB2 | Ellen McDonagh Source London South GLH was added to CACNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.4 | CACNB2 | James Eden reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Brugada syndrome 4 (611876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.3 | CACNB2 |
Ellen McDonagh Source North West GLH was added to CACNB2. Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2 Publications for gene CACNB2 were changed from 17224476; 30027834; 29759541 to 30420954; 19862833; 16301704 |
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| Short QT syndrome v0.32 | CACNB2 | Sarah Leigh Marked gene: CACNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.32 | CACNB2 | Sarah Leigh Gene: cacnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.32 | CACNB2 | Sarah Leigh Tag watchlist tag was added to gene: CACNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.32 | CACNB2 | Sarah Leigh Classified gene: CACNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.32 | CACNB2 | Sarah Leigh Added comment: Comment on list classification: Taking into consideration the Expert review green, this gene is rated amber rather than red, awaiting further reports of Short QT syndrome 5 associated with Brugada syndrome 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.32 | CACNB2 | Sarah Leigh Gene: cacnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.31 | CACNB2 | Sarah Leigh Classified gene: CACNB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.31 | CACNB2 | Sarah Leigh Gene: cacnb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.26 | CACNB2 | Louise Daugherty Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | CACNB2 | Sarah Leigh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224476; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | CACNB2 |
Sarah Leigh Source Brugada syndrome (Version 1.7) was added to CACNB2. Source Expert Review Green was added to CACNB2. Source UKGTN was added to CACNB2. Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Brugada syndrome 4 611876; Short QT syndrome 5 for gene: CACNB2 Rating Changed from No List (delete) to Green List (high evidence) |
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| Short QT syndrome v0.1 | CACNB2 |
Jules Hancox gene: CACNB2 was added gene: CACNB2 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB2 were set to PMID: 17224476; 30027834; 29759541 Phenotypes for gene: CACNB2 were set to short qt; brugada syndrome Review for gene: CACNB2 was set to GREEN Added comment: Mutations are to an accessory subunit for L-type Ca channels. Mixed SQTS and Brugada phenotype. Loss of function mutations. Sources: Literature |
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