Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: CAV3Previously: Limb-Girdle Muscular Dystrophy, Dominant;Muscular dystrophy, limb-girdle, type IC, 607801;Rippling muscle disease, 606072;Creatine phosphokinase, elevated serum, 123320;Myopathy, distal, Tateyama type, 614321;Cardiomyopathy, familial hypertrophic, 192600; Limb-girdle muscular dystrophyCreated: 6 Oct 2021, 1:12 p.m. | Last Modified: 6 Oct 2021, 1:12 p.m.
Panel Version: 2.29
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:21 a.m.
Tag Q3_21_MOI was removed from gene: CAV3.
Tag Q3_21_MOI tag was added to gene: CAV3.
Phenotypes for gene: CAV3 were changed from Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type IC, 607801; Rippling muscle disease, 606072; Creatine phosphokinase, elevated serum, 123320; Myopathy, distal, Tateyama type, 614321; Cardiomyopathy, familial hypertrophic, 192600; Limb-girdle muscular dystrophy to Rippling muscle disease 2, OMIM:606072; Myopathy, distal, Tateyama type, OMIM:614321
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
Publications for CAV3 were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CAV3 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CAV3 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
CAV3 was added to Limb girdle muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory