Muscular dystrophy and myopathy_Paediatric
Gene: CAVIN1

CAVIN1 (caveolae associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000177469
EnsemblGeneIds (GRCh37): ENSG00000177469
OMIM: 603198, Gene2Phenotype
CAVIN1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene also known as PTRF. Multiple families reported with onset of disease in childhood, muscular dystrophy is a feature.
Sources: Expert list
Created: 17 Jun 2020, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, congenital generalized, type 4 (MIM#613327)

Publications

Created: 17 Jun 2020, 6:44 a.m.

Panel version: 0.16

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene also known as PTRF. Multiple families reported with onset of disease in childhood.
Onset in infancy or early childhood (OMIM)
Sources: Expert Review
Created: 17 Jun 2020, 1:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipodystrophy, congenital generalized, type 4 (MIM#613327)

Publications

Created: 17 Jun 2020, 1:11 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.216

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Lipodystrophy, congenital generalized, type 4 (MIM#613327)

Tags

treatable

OMIM

603198

Clinvar variants

Variants in CAVIN1

Penetrance

None

Publications

Panels with this gene