Activity
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9 actions
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| Dystonia, chorea or related movement disorder, adult onset v0.101 | PCCB |
Louise Daugherty Source Expert Review Red was added to PCCB. 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 | PCCB | Louise Daugherty commented on gene: PCCB: 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 | PCCB | Louise Daugherty commented on gene: PCCB: 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 | PCCB | James Polke commented on gene: PCCB: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Propionicacidemia - onset in 1st few weeks of life | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.54 | PCCB | Louise Daugherty reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.53 | PCCB | James Polke reviewed gene: PCCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.52 | PCCB | Louise Daugherty Source NHS GMS was added to PCCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.51 | PCCB | Louise Daugherty Source London North GLH was added to PCCB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia, chorea or related movement disorder, adult onset v0.2 | PCCB |
Ellen McDonagh gene: PCCB was added gene: PCCB was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to Propionicacidemia |
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