Arrhythmogenic cardiomyopathy

Gene: CAVIN4

Red List (low evidence)

CAVIN4 (caveolae associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000170681
EnsemblGeneIds (GRCh37): ENSG00000170681
OMIM: 617714, Gene2Phenotype
CAVIN4 is in 2 panels

1 review

Rebecca Whittington (South West GLH)

I don't know

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
Unknown

Details

Mode of Inheritance
Unknown
Sources
OMIM
617714
Clinvar variants
Variants in CAVIN4
Penetrance
None
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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