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  2. Congenital muscular dystrophy and congenital myopathy
  3. CAVIN1
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: CAVIN1

Green List (high evidence)
CAVIN1 (caveolae associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000177469
EnsemblGeneIds (GRCh37): ENSG00000177469
OMIM: 603198, Gene2Phenotype
CAVIN1 is in 6 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 4:51 p.m. | Last Modified: 1 Feb 2023, 4:51 p.m.
Panel Version: 3.22
Created: 1 Feb 2023, 4:51 p.m.
Last Modified: 1 Feb 2023, 4:51 p.m.
Copied from panel: Congenital muscular dystrophy v3.28

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 3 Aug 2021, 10:39 a.m. | Last Modified: 3 Aug 2021, 10:39 a.m.
Panel Version: 2.14
Created: 3 Aug 2021, 10:39 a.m.
Last Modified: 3 Aug 2021, 10:39 a.m.
Copied from panel: Congenital muscular dystrophy v3.28

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

Created: 22 Jun 2020, 10:25 a.m.

Copied from panel: Congenital muscular dystrophy v3.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Lipodystrophy, congenital generalized, type 4, OMIM:613327
OMIM
603198
Clinvar variants
Variants in CAVIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CAVIN1 was added gene: CAVIN1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert list,NHS GMS,Expert Review Green 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, OMIM:613327