| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Dystonia - isolated/combined v0.6 | KCNMA1 | Bryony Thompson Marked gene: KCNMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.6 | KCNMA1 | Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.6 | KCNMA1 | Bryony Thompson Classified gene: KCNMA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.6 | KCNMA1 | Bryony Thompson Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.5 | KCNMA1 |
Bryony Thompson gene: KCNMA1 was added gene: KCNMA1 was added to Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNMA1 were set to 26195193; 15937479; 29356177 Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MIM#609446 Mode of pathogenicity for gene: KCNMA1 was set to Other Review for gene: KCNMA1 was set to GREEN Added comment: One family segregating a heterozygous variant and 3 cases with de novo variants with paroxysmal nonkinesigenic dyskinesia with or without other features such as developmental delay or epilepsy. 7 members of the large family and a single de novo have isolated PNKD, which is classified as a combined dystonia. Functional assays show gain-of-function for missense variant segregating in the large family. Sources: Expert list |
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