Activity
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10 actions
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| Dystonia, chorea or related movement disorder, adult onset v0.101 | WDR73 |
Louise Daugherty Source Expert Review Red was added to WDR73. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Dystonia, chorea or related movement disorder, adult onset v0.100 | WDR73 | Louise Daugherty commented on gene: WDR73: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.99 | WDR73 | Louise Daugherty commented on gene: WDR73: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.98 | WDR73 | James Polke commented on gene: WDR73: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Galloway-Mowat syndrome 1 - onset and often death in infancy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.54 | WDR73 | Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.53 | WDR73 | James Polke reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.52 | WDR73 | Louise Daugherty Source NHS GMS was added to WDR73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.51 | WDR73 | Louise Daugherty Source London North GLH was added to WDR73. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.5 | WDR73 | Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat Syndrome to Galloway-Mowat syndrome 1, 251300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | WDR73 |
Ellen McDonagh gene: WDR73 was added gene: WDR73 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome |
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