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| Adult onset dystonia, chorea or related movement disorder v0.101 | SURF1 |
Louise Daugherty Source Expert Review Red was added to SURF1. 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 | SURF1 | Louise Daugherty commented on gene: SURF1: 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 | SURF1 | Louise Daugherty commented on gene: SURF1: 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 | SURF1 | James Polke commented on gene: SURF1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: CMT4K (childhood) and Leigh Syndrome (infancy) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | SURF1 | Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | SURF1 | James Polke reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | SURF1 | Louise Daugherty Source NHS GMS was added to SURF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | SURF1 | Louise Daugherty Source London North GLH was added to SURF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.16 | SURF1 | Louise Daugherty Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | SURF1 |
Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal |
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