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Adult onset dystonia, chorea or related movement disorder v0.101 | SLC6A3 |
Louise Daugherty Source Expert Review Red was added to SLC6A3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Adult onset dystonia, chorea or related movement disorder v0.100 | SLC6A3 | Louise Daugherty commented on gene: SLC6A3: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.99 | SLC6A3 | Louise Daugherty commented on gene: SLC6A3: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.98 | SLC6A3 | James Polke commented on gene: SLC6A3: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Infantile parkinsonism-dystonia (hyperkinesia with orolingual and limb dyskinesia, dystonia, and chorea, or hypokinesia with parkinsonian features, such as bradykinesia, rigidity, and tremor): onset in early infancy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.54 | SLC6A3 | Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.53 | SLC6A3 | James Polke reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.52 | SLC6A3 | Louise Daugherty Source NHS GMS was added to SLC6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.51 | SLC6A3 | Louise Daugherty Source London North GLH was added to SLC6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.2 | SLC6A3 |
Ellen McDonagh gene: SLC6A3 was added gene: SLC6A3 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A3 were set to PMID: 24613933 Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 |