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  3. CAV3
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Familial hypercholesterolaemia

Gene: CAV3

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established for myopathy with/without elevated creatine

Red for HCM
Amber for LongQT
Created: 4 Apr 2022, 6:37 a.m. | Last Modified: 4 Apr 2022, 6:37 a.m.
Panel Version: 0.12544

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Apr 2022, 6:37 a.m.
Last Modified: 4 Apr 2022, 6:37 a.m.
Panel version: Imported from Mendeliome panel version 0.12544

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old.

PMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia.

Summary: 2 patients reported
Sources: Literature
Created: 15 Jun 2020, 5:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072

Publications

Created: 15 Jun 2020, 5:08 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 2 606072
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CAV3 were set to PMID: 32004987; 28807458

15 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Amber List (Moderate Evidence).

15 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: CAV3 was added gene: CAV3 was added to Familial hypercholesterolaemia. Sources: Literature Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to PMID: 32004987; 28807458 Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072 Review for gene: CAV3 was set to AMBER