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| Adult onset dystonia, chorea or related movement disorder v0.101 | BCAP31 |
Louise Daugherty Source Expert Review Red was added to BCAP31. 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 | BCAP31 | Louise Daugherty commented on gene: BCAP31: 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 | BCAP31 | Louise Daugherty commented on gene: BCAP31: 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 | BCAP31 | James Polke commented on gene: BCAP31: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Deafness, dystonia and cerebral hypomyelination (DDCH): childhood onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.54 | BCAP31 | Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.53 | BCAP31 | James Polke reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.52 | BCAP31 | Louise Daugherty Source NHS GMS was added to BCAP31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.51 | BCAP31 | Louise Daugherty Source London North GLH was added to BCAP31. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | BCAP31 |
Ellen McDonagh gene: BCAP31 was added gene: BCAP31 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCAP31 were set to 28332767; 24011989 Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475; DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS |
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