06 Oct 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29
CAV3
Ivone Leong commented on gene: CAV3
06 Oct 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29
CAV3
Ivone Leong Deleted their review
06 Oct 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29
CAV3
Ivone Leong Tag Q3_21_MOI was removed from gene: CAV3.
06 Oct 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29
CAV3
Ivone Leong Deleted their comment
15 Jul 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20
CAV3
Ivone Leong Tag Q3_21_MOI tag was added to gene: CAV3.
15 Jul 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20
CAV3
Ivone Leong edited their review of gene: CAV3: Added comment: MOI should be changed to Both monoallelic and biallelic to match the MOI for CAV3 in Rhabdomyolysis and metabolic muscle disorders panel.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
15 Jul 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20
CAV3
Ivone Leong Added comment: Comment on phenotypes: Previously: 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
15 Jul 2021
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20
CAV3
Ivone Leong 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