Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: CAV3
Established for myopathy with/without elevated creatine
Red for HCM
Amber for LongQTCreated: 4 Apr 2022, 6:37 a.m. | Last Modified: 4 Apr 2022, 6:37 a.m.
Panel Version: 0.12544
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Phenotypic overlap.Created: 29 Jun 2020, 10:44 a.m. | Last Modified: 29 Jun 2020, 10:44 a.m.
Panel Version: 0.32
PMID: 27312022 - 8 patients (7 families) with exercise intolerance (7/8), muscle atrophy (2/8) and rhabdomyolysis (2/8). Functional studies show a 50% reduction in protein from patient cells vs controls. Age at onset ranged from 7 years old to 30s, with 3/8 patients presenting <18 years of age.
PMID: 26185955 - 2 patients with muscle hypertrophy
Sources: Expert listCreated: 29 Jun 2020, 3:47 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072
Publications
Gene: cav3 has been classified as Green List (High Evidence).
Gene: cav3 has been classified as Amber List (Moderate Evidence).
Gene: cav3 has been classified as Amber List (Moderate Evidence).
gene: CAV3 was added gene: CAV3 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to PMID: 27312022; 26185955; 32090499 Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072 Review for gene: CAV3 was set to AMBER