Progressive cardiac conduction disease
Gene: KCNK17
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Two variants in HGMD, one of which associates with conduction disease (Friedrich 2014 EMBO Mol Med). Not enough literature association gene with condition.Created: 2 Oct 2019, 10:35 a.m. | Last Modified: 2 Oct 2019, 10:35 a.m.
Panel Version: 0.28
Mode of inheritance
Unknown
Publications
Potassium channel, subfamily K, Member 17 (no MIM)Created: 25 Mar 2019, 4:30 p.m.
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 24972929Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Phenotypes for gene: KCNK17 were changed from to Heart conduction disease, MONDO:0000992
Publications for gene: KCNK17 were set to
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