Activity
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7 actions
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| Dystonia - complex v0.242 | KCNQ2 | Bryony Thompson Publications for gene: KCNQ2 were set to 12742592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.241 | KCNQ2 | Bryony Thompson Classified gene: KCNQ2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.241 | KCNQ2 | Bryony Thompson Gene: kcnq2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.240 | KCNQ2 | Bryony Thompson edited their review of gene: KCNQ2: Added comment: Now 2 cases have been reported with dystonic features as part of a complex neurological phenotype.; Changed rating: AMBER; Changed publications: 12742592, 32585800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | KCNQ2 | Zornitza Stark Marked gene: KCNQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.102 | KCNQ2 | Zornitza Stark Gene: kcnq2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.23 | KCNQ2 |
Bryony Thompson gene: KCNQ2 was added gene: KCNQ2 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNQ2 were set to 12742592 Phenotypes for gene: KCNQ2 were set to Epileptic encephalopathy, early infantile, 7 MIM#613720 Review for gene: KCNQ2 was set to RED Added comment: Cannot find evidence that dystonia is a prominent feature of the condition. Single case reported with dystonic features from 2003 Sources: Expert list |
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