| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brugada syndrome and cardiac sodium channel disease v2.33 | KCNJ8 | Ivone Leong Phenotypes for gene: KCNJ8 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.38 | KCNJ8 | Rebecca Whittington commented on gene: KCNJ8: Only possible links with Brugada (OMIM 601144)) and Cantu (OMIM 23985) -VUS only | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.37 | KCNJ8 | Rebecca Whittington commented on gene: KCNJ8: NO evidence of association with Brugada Syndrome. 23632791. Variant reported here is very frequent on Gnomad especially Ashkenazi Jews | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.36 | KCNJ8 | Rebecca Whittington reviewed gene: KCNJ8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.23 | KCNJ8 |
Ellen McDonagh Source South West GLH was added to KCNJ8. Mode of inheritance for gene KCNJ8 was changed from to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.22 | KCNJ8 | Ellen McDonagh edited their review of gene: KCNJ8: Added comment: 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/10155; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.21 | KCNJ8 | Ellen McDonagh reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.20 | KCNJ8 | Ellen McDonagh Source London South GLH was added to KCNJ8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||