Short QT syndrome
Gene: KCNJ8
Not associated with Short QT phenotype in OMIM or in Gen2Phen, listed on the Brugada syndrome panel (Version 1.7).Created: 15 Nov 2018, 12:10 p.m.
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: LiteratureCreated: 26 Oct 2018, 11:10 a.m.
Mode of inheritance
Unknown
Phenotypes
short qt; ventricular tachycardia; atrial fibrillation
Publications
Mode of pathogenicity
Other
Jules Hancox: Would be gain of function muta
Publications for gene: KCNJ8 were set to 21383000; 15569843; 27283775
Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775
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)
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