This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: CAVIN4
CAVIN4 (caveolae associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000170681
EnsemblGeneIds (GRCh37): ENSG00000170681
OMIM: 617714, Gene2Phenotype
CAVIN4 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000170681
EnsemblGeneIds (GRCh37): ENSG00000170681
OMIM: 617714, Gene2Phenotype
CAVIN4 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new gene name tag. New approved gene symbol is CAVIN4Created: 8 May 2017, 12:50 p.m.
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, 2:07 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- 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
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 (DCM)
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 (DCM)panel. Sources: Literature