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| Childhood onset dystonia, chorea or related movement disorder v0.7 | CEP290 |
Ellen McDonagh Source PanelApp was added to CEP290. Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 611755; 610189; Senior-Loken syndrome; 611134; 610188; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome; Meckel syndrome 4; Joubert syndrome with oculorenal defect for gene: CEP290 Publications for gene CEP290 were changed from to 18327255; 20690115 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | CEP290 |
Ellen McDonagh gene: CEP290 was added gene: CEP290 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP290 was set to |
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