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Brugada syndrome and cardiac sodium channel disease 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 and cardiac sodium channel disease v1.38 | CACNB2 | Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 (OMIM 611876) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease 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 and cardiac sodium channel disease v1.36 | CACNB2 | Rebecca Whittington reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.24 | CACNB2 | Ellen McDonagh Classified gene: CACNB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease 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 and cardiac sodium channel disease v1.24 | CACNB2 | Ellen McDonagh Gene: cacnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease 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 |
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Brugada syndrome and cardiac sodium channel disease 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 and cardiac sodium channel disease v1.21 | CACNB2 | Ellen McDonagh reviewed gene: CACNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.20 | CACNB2 | Ellen McDonagh Source London South GLH was added to CACNB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease 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 and cardiac sodium channel disease 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) |
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Brugada syndrome and cardiac sodium channel disease 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. |