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Brugada syndrome v2.22 SCN10A Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Episodic pain syndrome, familial, 2 (615551)
Brugada syndrome v2.22 SCN10A Ivone Leong Phenotypes for gene: SCN10A were changed from Episodic pain syndrome, familial, 2 (615551) to Brugada syndrome, MONDO:0015263
Brugada syndrome v1.38 SCN10A Rebecca Whittington commented on gene: SCN10A: Episodic pain syndrome, familial, 2 (OMIM 615551), PR Interval, variation in (OMIM %108980)
Brugada syndrome v1.37 SCN10A Rebecca Whittington commented on gene: SCN10A: Rare. Evidence for association SNP / polygenic contribution Largest study in Hu paper PMID:24998131. PMID:25691538. PMID:25691686. PMID:25053638. https://www.ncbi.nlm.nih.gov/pubmed/28407228?dopt=Abstract.
Brugada syndrome v1.36 SCN10A Rebecca Whittington reviewed gene: SCN10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome v1.28 SCN10A Ellen McDonagh Classified gene: SCN10A as Red List (low evidence)
Brugada syndrome v1.28 SCN10A 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 v1.28 SCN10A Ellen McDonagh Gene: scn10a has been classified as Red List (Low Evidence).
Brugada syndrome v1.23 SCN10A Ellen McDonagh Source South West GLH was added to SCN10A.
Mode of inheritance for gene SCN10A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome v1.22 SCN10A Ellen McDonagh edited their review of gene: SCN10A: 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/10161; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome v1.21 SCN10A Ellen McDonagh reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome v1.20 SCN10A Ellen McDonagh Source London South GLH was added to SCN10A.
Brugada syndrome v1.19 SCN10A James Eden reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: 24998131, 27761167; Phenotypes: Episodic pain syndrome, familial, 2 (615551); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome v1.18 SCN10A Ellen McDonagh Source North West GLH was added to SCN10A.
Added phenotypes Episodic pain syndrome, familial, 2 (615551) for gene: SCN10A
Publications for gene SCN10A were changed from http://www.ncbi.nlm.nih.gov/pubmed/24998131 to 24998131; 27761167
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome v1.17 SCN10A Oxford Medical Genetics Laboratory commented on gene: SCN10A: On ClinVar just 1 variant in this gene is classified as pathogenic however it was detected in someone with episodic pain syndrome (not BS). All variants detected in Brugada syndrome (>100) classed as UV suggesting there is an absence of fundamental evidence that variants in this gene cause BS. Many of the variants detected in early reports of in this gene were later noted to have relatively high frequencies in populations therefore caution should be applied to previous case reports e.g. Hu et al 2014.