| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset dystonia, chorea or related movement disorder v1.36 | CHMP2B | Arina Puzriakova Phenotypes for gene: CHMP2B were changed from familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | CHMP2B | Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | CHMP2B | James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | CHMP2B | Louise Daugherty Source NHS GMS was added to CHMP2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | CHMP2B | Louise Daugherty Source London North GLH was added to CHMP2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | CHMP2B |
Ellen McDonagh gene: CHMP2B was added gene: CHMP2B was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Dystonia; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||