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| Brugada syndrome and cardiac sodium channel disease v2.27 | TRPM4 | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Progressive familial heart block, type IB 604559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v2.27 | TRPM4 | Ivone Leong Phenotypes for gene: TRPM4 were changed from Progressive familial heart block, type IB 604559; Progressive familial heart block, type IB (604559) to Brugada syndrome, MONDO:0015263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.38 | TRPM4 | Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (OMIM 604559) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.37 | TRPM4 | Rebecca Whittington commented on gene: TRPM4: Literature evidence including prevalence of variants in affected individuals and functional evidence. However appears mainly assoc with heart block /PCCD. PMID:23382873. PMID:29568272. https://www.ncbi.nlm.nih.gov/pubmed/21887725?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/26820365?dopt=Abstract | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.36 | TRPM4 | Rebecca Whittington reviewed gene: TRPM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.31 | TRPM4 | Ellen McDonagh Classified gene: TRPM4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.31 | TRPM4 | 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 v1.31 | TRPM4 | Ellen McDonagh Gene: trpm4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.23 | TRPM4 |
Ellen McDonagh Source South West GLH was added to TRPM4. Mode of inheritance for gene TRPM4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Brugada syndrome and cardiac sodium channel disease v1.22 | TRPM4 | Ellen McDonagh edited their review of gene: TRPM4: 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/10164; Changed rating: RED; Changed phenotypes: Brugada syndrome, MONDO_0015263; Changed mode of inheritance: Disputed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.21 | TRPM4 | Ellen McDonagh reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21887725, 23382873; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.19 | TRPM4 | James Eden reviewed gene: TRPM4: Rating: RED; Mode of pathogenicity: ; Publications: 23382873, 27761167; Phenotypes: Progressive familial heart block, type IB (604559); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.18 | TRPM4 |
Ellen McDonagh Source North West GLH was added to TRPM4. Added phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4 Publications for gene TRPM4 were changed from http://www.ncbi.nlm.nih.gov/pubmed/23382873 to 23382873; 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 | TRPM4 | Oxford Medical Genetics Laboratory commented on gene: TRPM4: Evidence of variants in this gene leading to progressive familial heart block but not for BS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.16 | TRPM4 | Eleanor Williams Added comment: Comment on phenotypes: Added phenotype from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brugada syndrome and cardiac sodium channel disease v1.16 | TRPM4 | Eleanor Williams Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||