Congenital muscular dystrophy

Gene: CAVIN1

No list

CAVIN1 (caveolae associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000177469
EnsemblGeneIds (GRCh37): ENSG00000177469
OMIM: 603198, Gene2Phenotype
CAVIN1 is in 7 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Muscular dystrophy as well as lipodystrophy.
Sources: Expert list
Created: 22 Jun 2020, 10:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lipodystrophy, congenital generalized, type 4 (MIM#613327)
OMIM
603198
Clinvar variants
Variants in CAVIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CAVIN1 was added gene: CAVIN1 was added to Congenital muscular dystrophy. Sources: Expert list Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAVIN1 were set to 19726876; 12116229 Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4 (MIM#613327) Review for gene: CAVIN1 was set to GREEN gene: CAVIN1 was marked as current diagnostic