Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.53 | HPCA | Arina Puzriakova Phenotypes for gene: HPCA were changed from Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia to Dystonia 2, torsion, autosomal recessive, OMIM:224500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | HPCA | Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | HPCA | James Polke reviewed gene: HPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | HPCA | Louise Daugherty Source NHS GMS was added to HPCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | HPCA | Louise Daugherty Source London North GLH was added to HPCA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | HPCA |
Ellen McDonagh gene: HPCA was added gene: HPCA was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPCA were set to 30145809; 25799108 Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; childhood-onset generalized dystonia; adolescence-onset segmental dystonia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||