Congenital muscular dystrophy
Gene: CAVIN1
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
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
Muscular dystrophy as well as lipodystrophy.
Sources: Expert listCreated: 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
Tag Q3_21_rating was removed from gene: CAVIN1.
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)
Tag Q3_21_rating tag was added to gene: CAVIN1.
Gene: cavin1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 (MIM#613327) to Lipodystrophy, congenital generalized, type 4, OMIM:613327
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