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Additional findings_Paediatric

Gene: CAV3

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Rated Category A by BabySeq for associated with Muscular dystrophy, limb-girdle, type IC and Caveolinopathy. Category C for association with cardiomyopathy/Long QT.
Created: 25 Sep 2020, 6:17 a.m. | Last Modified: 25 Sep 2020, 6:17 a.m.
Panel Version: 0.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muscular dystrophy, limb-girdle, type IC; Caveolinopathy

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC
  • Caveolinopathy
OMIM
601253
Clinvar variants
Variants in CAV3
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Green List (High Evidence).

25 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic; Rippling muscle disease; Long QT syndrome-9; Caveolinopathy; Muscular dystrophy, limb-girdle, type IC, to Muscular dystrophy, limb-girdle, type IC; Caveolinopathy

25 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cav3 has been classified as Green List (High Evidence).

27 Aug 2020, Gel status: 1

Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Rippling muscle disease for gene: CAV3

27 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Long QT syndrome-9 for gene: CAV3

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to CAV3. Source Expert Review Red was added to CAV3. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: CAV3 Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Caveolinopathy for gene: CAV3

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Muscular dystrophy, limb-girdle, type IC, for gene: CAV3

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Caveolinopathy for gene: CAV3

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAV3 was added gene: CAV3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC,