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  3. CAVIN1
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Congenital muscular dystrophy

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.
Panel version: 3.22

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.
Panel version: 2.14

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.

Panel version: 2.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
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

1 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: CAVIN1.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to CAVIN1. Source NHS GMS was added to CAVIN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Aug 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: CAVIN1.

3 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cavin1 has been classified as Amber List (Moderate Evidence).

3 Aug 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 (MIM#613327) to Lipodystrophy, congenital generalized, type 4, OMIM:613327

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