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Brugada syndrome and cardiac sodium channel disease v2.32 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119) to ?Brugada syndrome 6, OMIM:613119
Brugada syndrome and cardiac sodium channel disease v2.17 KCNE3 Ivone Leong Phenotypes for gene: KCNE3 were changed from ?Brugada syndrome 6 (613119); Brugada syndrome 6 to ?Brugada syndrome 6 (613119)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE3 Rebecca Whittington commented on gene: KCNE3: Reported in Japanese patient with ?apparent functional effect but also recorded 36x on GnomAD and not strong BI. Also variant in Delpon paper recorder 26 times on GnomAD and mixed reviews. Needs review as no clear association. PMID:19122847. https://www.karger.com/Article/Abstract/113746. https://www.karger.com/Article/Abstract/113746
Brugada syndrome and cardiac sodium channel disease v1.36 KCNE3 Rebecca Whittington reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.27 KCNE3 Ellen McDonagh Classified gene: KCNE3 as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.27 KCNE3 Ellen McDonagh Added comment: Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Brugada syndrome and cardiac sodium channel disease v1.27 KCNE3 Ellen McDonagh Gene: kcne3 has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.23 KCNE3 Ellen McDonagh Source South West GLH was added to KCNE3.
Mode of inheritance for gene KCNE3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.22 KCNE3 Ellen McDonagh edited their review of gene: KCNE3: 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/10152; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.21 KCNE3 Ellen McDonagh reviewed gene: KCNE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.20 KCNE3 Ellen McDonagh Source London South GLH was added to KCNE3.
Brugada syndrome and cardiac sodium channel disease v1.19 KCNE3 James Eden reviewed gene: KCNE3: Rating: RED; Mode of pathogenicity: ; Publications: 19122847, 27761167; Phenotypes: ?Brugada syndrome 6 (613119); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.18 KCNE3 Ellen McDonagh Source North West GLH was added to KCNE3.
Added phenotypes ?Brugada syndrome 6 (613119) for gene: KCNE3
Publications for gene KCNE3 were changed from to 19122847; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.17 KCNE3 Oxford Medical Genetics Laboratory commented on gene: KCNE3: Variants detected in individuals with 2 different phenotypes - Brugada syndrome and periodic paralysis. Abbot et al report expression at low levels in the heart. 2 variants reported: T4A which we would consider unlikely / polymorphism (0.4 percentage of East Asians on gnomAD). R99H - which has conflicting interpretations on ClinVar (unlikely UV likely and pathogenic). Could be a potential candidate gene but zero evidence at present.