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| Dystonia - isolated/combined v0.45 | PNKD | Zornitza Stark Marked gene: PNKD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.45 | PNKD | Zornitza Stark Gene: pnkd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.45 | PNKD | Zornitza Stark Phenotypes for gene: PNKD were changed from PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800 to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.44 | PNKD | Zornitza Stark Publications for gene: PNKD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.43 | PNKD | Zornitza Stark edited their review of gene: PNKD: Changed phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800, MONDO:0007326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.43 | PNKD | Zornitza Stark reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15262732, 15496428, 15824259, 19124534, 21487022; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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| Dystonia - isolated/combined v0.0 | PNKD |
Bryony Thompson gene: PNKD was added gene: PNKD was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800 |
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