| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Progressive cardiac conduction disease v1.35 | KCNK17 | Ivone Leong Phenotypes for gene: KCNK17 were changed from to Heart conduction disease, MONDO:0000992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.34 | KCNK17 | Ivone Leong Publications for gene: KCNK17 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.30 | KCNK17 | Ivone Leong reviewed gene: KCNK17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | KCNK17 | James Eden reviewed gene: KCNK17: Rating: RED; Mode of pathogenicity: None; Publications: 24972929; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.18 | KCNK17 | Rebecca Whittington commented on gene: KCNK17: Potassium channel, subfamily K, Member 17 (no MIM) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.17 | KCNK17 | Rebecca Whittington commented on gene: KCNK17: PCCD patient with idiopathic ventricular fibrillation, whole exome sequencing identified a missense mutation G88R, in the gene KCNK17, which codes for the potassium channel TASK-4. This mutation led to a gain of function of the TASK-4-mediated current and may, similarly to the gain-of-function mechanisms proposed for TRPM4 24972929 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.16 | KCNK17 | Rebecca Whittington reviewed gene: KCNK17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.15 | KCNK17 |
Ellen McDonagh gene: KCNK17 was added gene: KCNK17 was added to Progressive cardiac conduction disease. Sources: South West GLH Mode of inheritance for gene: KCNK17 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||