Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Short QT syndrome v1.4 | AKAP9 | James Eden reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 19862833, 30420954, 16301704; Phenotypes: Long QT syndrome-11 (611820); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Short QT syndrome v1.3 | AKAP9 |
Ellen McDonagh Source North West GLH was added to AKAP9. Added phenotypes Long QT syndrome-11 (611820) for gene: AKAP9 Publications for gene AKAP9 were changed from to 30420954; 19862833; 16301704 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Short QT syndrome v0.4 | AKAP9 | Sarah Leigh reviewed gene: AKAP9: Rating: RED; Mode of pathogenicity: ; Publications: 18093912; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Short QT syndrome v0.2 | AKAP9 |
Sarah Leigh gene: AKAP9 was added gene: AKAP9 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5),Emory Genetics Laboratory Mode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKAP9 were set to ?Long QT syndrome-11 611820 |