Activity
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| Dilated Cardiomyopathy and conduction defects v1.55 | CAVIN4 | Rebecca Whittington commented on gene: CAVIN4: Phenotype not listed on OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | CAVIN4 | Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with DCM (6) and ARVC (2). One reference with cardiomyopathy 2018: Szabadosova J Clin Lab Anal. 2018 Feb;32(2) - NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | CAVIN4 | Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | CAVIN4 | Ellen McDonagh Source South West GLH was added to CAVIN4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||