Arrhythmogenic right ventricular cardiomyopathy
Gene: CAVIN4

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.23

Details

Mode of Inheritance

Unknown

Sources

South West GLH

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

Arrhythmogenic right ventricular cardiomyopathy Gene: CAVIN4