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  3. KCNJ8
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Short QT syndrome

Gene: KCNJ8

Red List (low evidence)
KCNJ8 (potassium voltage-gated channel subfamily J member 8)
EnsemblGeneIds (GRCh38): ENSG00000121361
EnsemblGeneIds (GRCh37): ENSG00000121361
OMIM: 600935, Gene2Phenotype
KCNJ8 is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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.
Created: 15 Nov 2018, 12:10 p.m.

Panel version: 0.4

Jules Hancox (University of Bristol)

Red List (low evidence)

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
Created: 26 Oct 2018, 11:10 a.m.

Mode of inheritance
Unknown

Phenotypes
short qt; ventricular tachycardia; atrial fibrillation

Publications

Mode of pathogenicity
Other

Created: 26 Oct 2018, 11:10 a.m.

Panel version: 0.1

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Brugada syndrome (Version 1.7)
Phenotypes
  • short qt
  • ventricular tachycardia
  • atrial fibrillation
OMIM
600935
Clinvar variants
Variants in KCNJ8
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: Would be gain of function muta

19 Nov 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KCNJ8 were set to 21383000; 15569843; 27283775

19 Nov 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: KCNJ8 were set to PMID: 21383000; 15569843; 27283775

15 Nov 2018, Gel status: 1

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

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)

26 Oct 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Jules Hancox (University of Bristol)

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