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Brugada syndrome and cardiac sodium channel disease v2.15 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777) to Brugada syndrome 2, OMIM:611777
Brugada syndrome and cardiac sodium channel disease v2.13 GPD1L Ivone Leong Phenotypes for gene: GPD1L were changed from Brugada syndrome 2 (611777); Brugada syndrome 2 to Brugada syndrome 2 (611777)
Brugada syndrome and cardiac sodium channel disease v1.38 GPD1L Rebecca Whittington commented on gene: GPD1L: Brugada syndrome 2 (OMIM 611777)
Brugada syndrome and cardiac sodium channel disease v1.37 GPD1L Rebecca Whittington commented on gene: GPD1L: Variant described in the London paper is recorded 36x on GnomAD. Also several asymptomatic patients have the variant. Variant described in the Huang paper describes nonsense variant assoc with SID that segregated in the family but 36 x on GnomAD. Other variants listed on OMIM as pathogenic at very high frequency on gnomAD. Evidence is not strong for monogenic cause. PMID:17967977. PMID:29077258. PMID:17967976
Brugada syndrome and cardiac sodium channel disease v1.36 GPD1L Rebecca Whittington reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.25 GPD1L Ellen McDonagh Classified gene: GPD1L as Red List (low evidence)
Brugada syndrome and cardiac sodium channel disease v1.25 GPD1L 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 v1.25 GPD1L Ellen McDonagh Gene: gpd1l has been classified as Red List (Low Evidence).
Brugada syndrome and cardiac sodium channel disease v1.23 GPD1L Ellen McDonagh Source South West GLH was added to GPD1L.
Mode of inheritance for gene GPD1L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown
Brugada syndrome and cardiac sodium channel disease v1.22 GPD1L Ellen McDonagh edited their review of gene: GPD1L: 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/10149; Changed rating: RED; Changed phenotypes: Brugada syndrome 1, MONDO_0011001; Changed mode of inheritance: Disputed
Brugada syndrome and cardiac sodium channel disease v1.21 GPD1L Ellen McDonagh reviewed gene: GPD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Brugada syndrome and cardiac sodium channel disease v1.20 GPD1L Ellen McDonagh Source London South GLH was added to GPD1L.
Brugada syndrome and cardiac sodium channel disease v1.19 GPD1L James Eden reviewed gene: GPD1L: Rating: RED; Mode of pathogenicity: ; Publications: 19666841, 27761167; Phenotypes: Brugada syndrome 2 (611777); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Brugada syndrome and cardiac sodium channel disease v1.18 GPD1L Ellen McDonagh Source North West GLH was added to GPD1L.
Added phenotypes Brugada syndrome 2 (611777) for gene: GPD1L
Publications for gene GPD1L were changed from to 27761167; 19666841
Rating Changed from Green List (high evidence) to Green List (high evidence)
Brugada syndrome and cardiac sodium channel disease v1.17 GPD1L Oxford Medical Genetics Laboratory commented on gene: GPD1L: PMID 17967977 - Identified variant through linkage and candidate gene approach. A280V detected in 16 phenotypically affected members of the family and in a further 27 phenotypically uncertain members. Functional studies suggest altered trafficking of SCN5A. Is in 25 of 126354 European alleles on gnomAD. PMID 17967976 - following detection of variant in PMID 17967977 this group screened SCD cases. E83K id in 3month old SCD which is in 37 of 128998 European alleles on GnomAD. PMID 17967976 - R273C in 1 month olf SIDS case which is in 12 of 111718 Europeans alleles in gnomAD. In conclusion - most variants identified to date are more frequent on gnomAD than the prevelance of Brugada syndrome which made it unlikely they are mendelian cause of disease.