Brugada syndrome and cardiac sodium channel disease
Gene: KCNJ8
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
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
Comment when marking as ready: Not on Manchester diagnostic panelCreated: 11 Feb 2016, 12:21 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Source South West GLH was added to KCNJ8. Mode of inheritance for gene KCNJ8 was changed from to Unknown
Source London South GLH was added to KCNJ8.
This gene has been classified as Red List (Low Evidence).
KCNJ8 was added to Brugada syndromepanel. Sources: Expert list