Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.5 | NUS1 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: NUS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.5 | NUS1 | Arina Puzriakova reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.4 | NUS1 |
Arina Puzriakova Source NHS GMS was added to NUS1. Source Expert Review Green was added to NUS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.3 | NUS1 | Achchuthan Shanmugasundram Classified gene: NUS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.3 | NUS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the association of this gene with childhood-onset movement disorder including dystonia. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.3 | NUS1 | Achchuthan Shanmugasundram Gene: nus1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.2 | NUS1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v6.2 | NUS1 |
Achchuthan Shanmugasundram gene: NUS1 was added gene: NUS1 was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NUS1 were set to 32334381; 32959737; 38291835 Phenotypes for gene: NUS1 were set to movement disorder, MONDO:0005395 Review for gene: NUS1 was set to GREEN Added comment: PMID:32334381 reported a patient with childhood onset static and focal upper limb dystonia and was diagnosed with a monoallelic NUS1 variant via WES. PMID:32959737 reported a 34-year-old patient with autosomal dominant NUS1 variant and with a prominent and progressive generalised dystonia. PMID:38291835 reported five unrelated patients ranging from 13 to 53 years of age with monoallelic NUS1 variant. They presented with movement disorder and its onset ranged from birth to 13 years of age. Three of them had dystonia. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||