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Molecular autopsy

Gene: KCNJ8

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

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

Details

Mode of Inheritance
Unknown
Sources
  • London South GLH
  • Expert Review Amber
Phenotypes
  • ventricular tachycardia
  • Brugada/Brugada like syndrome
  • Sudden infant death syndrome
  • ?Ventricular fibrillation
  • arrhythmia
  • short qt
  • atrial fibrillation
OMIM
600935
Clinvar variants
Variants in KCNJ8
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to KCNJ8.

20 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes ?Ventricular fibrillation for gene: KCNJ8 Publications for gene KCNJ8 were changed from 21383000; 27283775; 15569843 to 19120683

20 Dec 2018, Gel status: 2

Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for gene KCNJ8 was changed from to Other Added phenotypes ventricular tachycardia; Brugada/Brugada like syndrome; atrial fibrillation; short qt for gene: KCNJ8 Publications for gene KCNJ8 were changed from PMID: 21836131 to 21383000; 27283775; 15569843

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: KCNJ8 was added gene: KCNJ8 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: KCNJ8 was set to Unknown Publications for gene: KCNJ8 were set to PMID: 21836131 Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrome; arrhythmia; ?Ventricular fibrillation