| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v1.18 | KCNN2 | Alison Yeung Marked gene: KCNN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.18 | KCNN2 | Alison Yeung Gene: kcnn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.18 | KCNN2 | Alison Yeung Publications for gene: KCNN2 were set to PMID: 32212350; 33242881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.17 | KCNN2 | Alison Yeung Classified gene: KCNN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.17 | KCNN2 | Alison Yeung Gene: kcnn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v1.16 | KCNN2 |
Chern Lim gene: KCNN2 was added gene: KCNN2 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN2 were set to PMID: 32212350; 33242881 Phenotypes for gene: KCNN2 were set to Dystonia 34, myoclonic, MIM#619724; Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Review for gene: KCNN2 was set to GREEN gene: KCNN2 was marked as current diagnostic Added comment: PMID: 32212350: one family with multiple affected individuals, autosomal-dominant tremulous myoclonus-dystonia. PMID: 33242881: one of the patients had myoclonus-dystonia, one with dystonia and dyskinesia (limbs and trunk). Sources: Literature |
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