Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Brugada syndrome and cardiac sodium channel disease v3.8 | SCN1B | Arina Puzriakova Phenotypes for gene: SCN1B were changed from Brugada syndrome 5, OMIM:612838 to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v3.7 | SCN1B | Arina Puzriakova Mode of inheritance for gene: SCN1B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v3.6 | SCN1B | Arina Puzriakova Tag disputed tag was added to gene: SCN1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v2.23 | SCN1B | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Cardiac conduction defect, nonspecific (612838), Atrial fibrillation, familial, 13 (615377), Epileptic encephalopathy, early infantile, 52 (617350), Epilepsy, generalized, with febrile seizures plus, type 1 (604233) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v2.23 | SCN1B | Ivone Leong Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5; Brugada syndrome 5 (612838); Epileptic encephalopathy, early infantile, 52 (617350); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) to Brugada syndrome 5, OMIM:612838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.38 | SCN1B | Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 (OMIM 615377), Brugada syndrome 5 (OMIM 612838), Cardiac conduction defect, nonspecific (OMIM 612838), Epilepsy, generalized, with febrile seizures plus, type 1 (OMIM 604233), Epileptic encephalopathy, early infantile, 52 (OMIM 617350 - AR). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.37 | SCN1B | Rebecca Whittington commented on gene: SCN1B: Literature evidence includes cosegregation and functional evidence. PMID:18464934. PMID:25253298. PMID:28878239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.36 | SCN1B | Rebecca Whittington reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.29 | SCN1B | Ellen McDonagh Classified gene: SCN1B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.29 | SCN1B | 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 v1.29 | SCN1B | Ellen McDonagh Gene: scn1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.23 | SCN1B |
Ellen McDonagh Source South West GLH was added to SCN1B. Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.22 | SCN1B | Ellen McDonagh edited their review of gene: SCN1B: 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/10158; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.21 | SCN1B | Ellen McDonagh reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.20 | SCN1B | Ellen McDonagh Source London South GLH was added to SCN1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.19 | SCN1B | James Eden reviewed gene: SCN1B: Rating: RED; Mode of pathogenicity: ; Publications: 25253298, 27761167; Phenotypes: Atrial fibrillation, familial, 13 (615377), Brugada syndrome 5 (612838), Cardiac conduction defect, nonspecific (612838), Epilepsy, generalized, with febrile seizures plus, type 1 (604233), Epileptic encephalopathy, early infantile, 52 (617350); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.18 | SCN1B |
Ellen McDonagh Source North West GLH was added to SCN1B. Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B Publications for gene SCN1B were changed from to 25253298; 27761167 Rating Changed from Green List (high evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.17 | SCN1B | Oxford Medical Genetics Laboratory commented on gene: SCN1B: Small number of variants reported to be pathogenic on ClinVar detected in an array of different patient cohorts including AF BS epilepsy cardiomyopathy conduction defects and epileptic encephalopathy. PMID 29758173 reports lack of genotype or phenotype correlations in families with BS or SADS with previously thought to be pathogenic variants in SCN1B. |