| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Marked gene: CACNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Classified gene: CACNB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.9 | CACNB2 | Zornitza Stark Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.8 | CACNB2 | Zornitza Stark Tag disputed tag was added to gene: CACNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.1 | CACNB2 |
Daniel Flanagan gene: CACNB2 was added gene: CACNB2 was added to Short QT syndrome. Sources: Expert Review Mode of inheritance for gene: CACNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNB2 were set to PMID: 34557911 Phenotypes for gene: CACNB2 were set to Short QT syndrome 1 Review for gene: CACNB2 was set to RED Added comment: Disputed association with Short QT syndrome 1 by ClinGen expert panel / PMID: 34557911. Single case in which the expert panel concluded the phenotype was Brugada syndrome and not SQTS. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||