Activity
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9 actions
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| Dystonia, chorea or related movement disorder, adult onset v0.101 | OCLN |
Louise Daugherty Source Expert Review Red was added to OCLN. 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 | OCLN | Louise Daugherty commented on gene: OCLN: 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 | OCLN | Louise Daugherty commented on gene: OCLN: 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 | OCLN | James Polke commented on gene: OCLN: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pseudo-TORCH syndrome 1 - onset in infancy/early childhood | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.54 | OCLN | Louise Daugherty reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.53 | OCLN | James Polke reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.52 | OCLN | Louise Daugherty Source NHS GMS was added to OCLN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.51 | OCLN | Louise Daugherty Source London North GLH was added to OCLN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | OCLN |
Ellen McDonagh gene: OCLN was added gene: OCLN was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OCLN were set to 20727516 Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria 251290 |
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