| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Dystonia - isolated/combined v0.61 | PODXL | Zornitza Stark Marked gene: PODXL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.61 | PODXL | Zornitza Stark Gene: podxl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.9 | PODXL |
Bryony Thompson changed review comment from: Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings. Sources: Expert list; to: Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings. There is high evidence that both monoallelic and biallelic variants cause FSGS. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - isolated/combined v0.9 | PODXL |
Bryony Thompson gene: PODXL was added gene: PODXL was added to Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: PODXL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PODXL were set to 26864383 Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease Review for gene: PODXL was set to RED Added comment: Single consanguineous Indian family reported with a homozygous loss of function variant. Dystonia reported in three affected siblings. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||