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Adult onset dystonia, chorea or related movement disorder v0.101 | PDP1 |
Louise Daugherty Source Expert Review Red was added to PDP1. 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 | PDP1 | Louise Daugherty commented on gene: PDP1: 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 | PDP1 | Louise Daugherty commented on gene: PDP1: 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 | PDP1 | James Polke commented on gene: PDP1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Pyruvate dehydrogenase phosphatase deficiency onset in infancy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.54 | PDP1 | Louise Daugherty reviewed gene: PDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.53 | PDP1 | James Polke reviewed gene: PDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.52 | PDP1 | Louise Daugherty Source NHS GMS was added to PDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.51 | PDP1 | Louise Daugherty Source London North GLH was added to PDP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.19 | PDP1 | Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Adult onset dystonia, chorea or related movement disorder v0.2 | PDP1 |
Ellen McDonagh gene: PDP1 was added gene: PDP1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP1 were set to 19184109; 15855260 |