Date Panel Item Activity
4 actions
Arrhythmogenic cardiomyopathy v1.23 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: No OMIM association; HGMD DMD/ARVC
Arrhythmogenic cardiomyopathy v1.22 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with mainly DCM, with with ARVC. Two references are 2018 (PMID30165862). Both 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 .
Arrhythmogenic cardiomyopathy v1.21 CAVIN4 Rebecca Whittington reviewed gene: CAVIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Arrhythmogenic cardiomyopathy v1.20 CAVIN4 Ellen McDonagh gene: CAVIN4 was added
gene: CAVIN4 was added to Arrhythmogenic cardiomyopathy. Sources: South West GLH
Mode of inheritance for gene: CAVIN4 was set to Unknown