Arrhythmogenic cardiomyopathyGene: CAVIN4
No OMIM association; HGMD DMD/ARVC
Created: 25 Mar 2019, 4:30 p.m.
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 .
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
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