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| Adult onset dystonia, chorea or related movement disorder v0.101 | BCS1L |
Louise Daugherty Source Expert Review Red was added to BCS1L. 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 | BCS1L | Louise Daugherty commented on gene: BCS1L: 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 | BCS1L | Louise Daugherty commented on gene: BCS1L: 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 | BCS1L | James Polke commented on gene: BCS1L: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: early childhood onset? Not a movement disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | BCS1L | Louise Daugherty reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | BCS1L | James Polke reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | BCS1L | Louise Daugherty Source NHS GMS was added to BCS1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | BCS1L | Louise Daugherty Source London North GLH was added to BCS1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.15 | BCS1L | Louise Daugherty Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, 262000; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | BCS1L |
Ellen McDonagh gene: BCS1L was added gene: BCS1L was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal |
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