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  3. CAV3
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Hypertrophic cardiomyopathy_HCM

Gene: CAV3

Red List (low evidence)
CAV3 (caveolin 3)
EnsemblGeneIds (GRCh38): ENSG00000182533
EnsemblGeneIds (GRCh37): ENSG00000182533
OMIM: 601253, Gene2Phenotype
CAV3 is in 9 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

one family (2 brothers) with HCM (14672715)
knockout mice develop a progressive cardiomyopathy (12138167)
The three CAV# three variants reported by Rabattu (2016) (27483260) in HCM patents all have unacceptable frequencies in Gnomad to be considered pathogenic by current standards.
Created: 19 Jun 2020, 12:32 p.m. | Last Modified: 19 Jun 2020, 12:32 p.m.
Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypertrophic cardiomyopathy; long QT syndrome

Publications

Created: 19 Jun 2020, 12:32 p.m.
Last Modified: 19 Jun 2020, 12:32 p.m.
Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, MIM# 192600
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Red List (Low Evidence).

20 Jun 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAV3 were changed from to Cardiomyopathy, familial hypertrophic, MIM# 192600

20 Jun 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CAV3 were set to

20 Jun 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAV3 was added gene: CAV3 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CAV3 was set to Unknown