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Severe Paediatric Disorders v0.17 | CAV3 | Louise Daugherty Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CAV3 | Louise Daugherty reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CAV3 | Louise Daugherty Publications for gene CAV3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CAV3 | Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CAV3 | Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CAV3 | Louise Daugherty Added phenotypes Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Creatine phosphokinase, elevated serum, 123320; Cardiomyopathy, familial hypertrophic, 192600; Rippling muscle disease 2, 606072 for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CAV3 | Louise Daugherty Added phenotypes Creatine phosphokinase, elevated serum, 123320; Rippling muscle disease 2, 606072; Myopathy, distal, Tateyama type, 614321; Long QT syndrome 9, 611818; Cardiomyopathy, familial hypertrophic, 192600 for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CAV3 | Louise Daugherty Source Next Generation Children Project was added to CAV3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CAV3 |
Louise Daugherty Source Expert Review Green was added to CAV3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CAV3 |
Louise Daugherty gene: CAV3 was added gene: CAV3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CAV3 was set to |