Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong commented on gene: CAV3
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong Deleted their review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong Tag Q3_21_MOI was removed from gene: CAV3.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.29 CAV3 Ivone Leong Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.20 CAV3 Ivone Leong Tag Q3_21_MOI tag was added to gene: CAV3.
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
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
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