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Brugada syndrome v2.11 CACNB2 Ivone Leong Phenotypes for gene: CACNB2 were changed from Brugada syndrome 4; Brugada syndrome 4 (611876) to Brugada syndrome 4 (611876)
Brugada syndrome v1.38 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 (OMIM 611876)
Brugada syndrome v1.37 CACNB2 Rebecca Whittington commented on gene: CACNB2: Not much evidence for this gene. Variant described in Cardeiro paper (19358333) is not convincing. Other variant from Antzelevitch paper (17224476) tracks in family with Brugada, ? Functional evidence and strong BI and no frequency.PMID:22840528
Brugada syndrome v1.36 CACNB2 Rebecca Whittington reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome v1.24 CACNB2 Ellen McDonagh Classified gene: CACNB2 as Red List (low evidence)
Brugada syndrome v1.24 CACNB2 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 v1.24 CACNB2 Ellen McDonagh Gene: cacnb2 has been classified as Red List (Low Evidence).
Brugada syndrome v1.23 CACNB2 Ellen McDonagh Source South West GLH was added to CACNB2.
Mode of inheritance for gene CACNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome v1.22 CACNB2 Ellen McDonagh edited their review of gene: CACNB2: 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/10148; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome v1.21 CACNB2 Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome v1.20 CACNB2 Ellen McDonagh Source London South GLH was added to CACNB2.
Brugada syndrome v1.19 CACNB2 James Eden reviewed gene: CACNB2: Rating: RED; Mode of pathogenicity: ; Publications: 17224476, 27761167; Phenotypes: Brugada syndrome 4 (611876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome v1.18 CACNB2 Ellen McDonagh Source North West GLH was added to CACNB2.
Added phenotypes Brugada syndrome 4 (611876) for gene: CACNB2
Publications for gene CACNB2 were changed from to 17224476; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome v1.17 CACNB2 Oxford Medical Genetics Laboratory commented on gene: CACNB2: PMID 17224476 - Describe a new clinical entity consisting of ST-segment elevation V1-V3 and shorter than normal QTc. S481L segregation with ST elevation and shortened QTc with ajmaline challenge in 6 family members; only the proband and brother are described as symptomatic. PMID 19358333 - T11I variant identified in proband presenting with syncope St elevation negative T-wave QTc428. T11I is in a minor transcript that has an alternative exon 1. No details about family. PMID 22840528 - report 2 probands with variants in CACNB2B: V340I (found in 13 of 113696 European alleles on gnomAD) and E499D (found in 7 of 35436 Latino alleles on gnomAD). In conclusion - insufficient evidence for any one or combination of these variants to constitute high evidence.