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Adult onset 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)
Adult onset 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 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 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 movement disorder v0.54 PDP1 Louise Daugherty reviewed gene: PDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.53 PDP1 James Polke reviewed gene: PDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset movement disorder v0.52 PDP1 Louise Daugherty Source NHS GMS was added to PDP1.
Adult onset movement disorder v0.51 PDP1 Louise Daugherty Source London North GLH was added to PDP1.
Adult onset movement disorder v0.19 PDP1 Louise Daugherty Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, 608782
Adult onset 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