Brugada syndrome and cardiac sodium channel disease
Gene: KCNJ8EnsemblGeneIds (GRCh38): ENSG00000121361
EnsemblGeneIds (GRCh37): ENSG00000121361
OMIM: 600935, Gene2Phenotype
KCNJ8 is in 7 panels
5 reviews
Luke Stuart (Genomics England Curator)
Hu et al. 2026 (PMID 41995661) identified KCNJ8 p.Ala88Gly in three of 413 J-wave-syndrome probands, including one individual with ventricular fibrillation after myocardial infarction. Testing was carried out using an NGS panel. The variant is present in Gnomad v4 at an allele count of 402, including 1 homozygote. Functional studies supported a gain of function mechanism.Created: 5 Nov 2026, 11:13 a.m. | Last Modified: 5 Nov 2026, 11:13 a.m.
Panel Version: 3.18
Mode of inheritance
Unknown
Phenotypes
Brugada syndrome (MONDO:0015263)
Publications
Mode of pathogenicity
Other
Rebecca Whittington (South West GLH)
Only possible links with Brugada (OMIM 601144)) and Cantu (OMIM 23985) -VUS onlyCreated: 25 Mar 2019, 4:30 p.m.
NO evidence of association with Brugada Syndrome. 23632791. Variant reported here is very frequent on Gnomad especially Ashkenazi JewsCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10155Created: 20 Feb 2019, 2:47 p.m.
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.
Mode of inheritance
Disputed
Phenotypes
Brugada syndrome 1; MONDO_0011001
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Not on Manchester diagnostic panelCreated: 11 Feb 2016, 12:21 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- London South GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Brugada syndrome, MONDO:0015263
- OMIM
- 600935
- Clinvar variants
- Variants in KCNJ8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: KCNJ8 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to KCNJ8. Mode of inheritance for gene KCNJ8 was changed from to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to KCNJ8.
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)KCNJ8 was added to Brugada syndromepanel. Sources: Expert list