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  2. Dilated Cardiomyopathy and conduction defects
  3. CAVIN4
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Dilated Cardiomyopathy and conduction defects

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

3 reviews

Rebecca Whittington (South West GLH)

I don't know

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

Panel version: 1.55

Louise Daugherty (Genomics England Curator)

Added new gene name tag. New approved gene symbol is CAVIN4
Created: 8 May 2017, 12:50 p.m.
Created: 8 May 2017, 12:50 p.m.

Panel version: 1.19

Ellen McDonagh (Genomics England Curator)

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.
Created: 19 Feb 2016, 2:08 p.m.

Panel version: 1.2

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
  • Literature
Phenotypes
  • Dilated cardiomyopathy
OMIM
617714
Clinvar variants
Variants in CAVIN4
Penetrance
Complete
Publications
  • 21642240
  • doi:10.​1007/​s12265-016-9673-5
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to CAVIN4.

5 Nov 2017, Gel status: 1

Changed Gene Name

GEL ()

MURC was changed to CAVIN4

5 Nov 2017, Gel status: 1

Removed Tag

GEL ()

new-gene-name was removed from MURC. Panel: Dilated Cardiomyopathy and conduction defects

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MURC was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MURC was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Literature