Dilated Cardiomyopathy and conduction defectsGene: CAVIN4
Phenotype not listed on OMIM.
Created: 25 Mar 2019, 4:30 p.m.
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 .
Created: 25 Mar 2019, 4:27 p.m.
Added new gene name tag. New approved gene symbol is CAVIN4
Created: 8 May 2017, 12:50 p.m.
On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 6.
Created: 19 Feb 2016, 2:08 p.m.
Source South West GLH was added to CAVIN4.
MURC was changed to CAVIN4
new-gene-name was removed from MURC. Panel: Dilated Cardiomyopathy and conduction defects
MURC was created by ellenmcdonagh
MURC was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature