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| Short QT syndrome v0.27 | KCNJ8 | Louise Daugherty Publications for gene: KCNJ8 were set to 21383000; 15569843; 27283775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.24 | KCNJ8 | Louise Daugherty Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.4 | KCNJ8 | Sarah Leigh reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | KCNJ8 |
Sarah Leigh Source Brugada syndrome (Version 1.7) was added to KCNJ8. Source Expert Review Red was added to KCNJ8. Rating Changed from No List (delete) to Red List (low evidence) |
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| Short QT syndrome v0.1 | KCNJ8 |
Jules Hancox gene: KCNJ8 was added gene: KCNJ8 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: KCNJ8 was set to Unknown Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775 Phenotypes for gene: KCNJ8 were set to short qt; ventricular tachycardia; atrial fibrillation Mode of pathogenicity for gene: KCNJ8 was set to Other Review for gene: KCNJ8 was set to RED Added comment: Would be gain of function mutations. The rationale for including this is that whilst mutations have not yet been detected, it is a candidate gene. KCNJ8 encodes Kir6.1 which is a component of the K(ATP) channel. Templin et al (PMID: 21383000) included it in a SQTS panel as a candidate gene along with SUR2A (another component of the KATP channel. A number of experimental studies have shown that K(ATP) channel activation gives a SQTS phenotype. Sources: Literature |
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