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Adult onset dystonia, chorea or related movement disorder v0.101 KCNA1 Louise Daugherty Source Expert Review Red was added to KCNA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.100 KCNA1 Louise Daugherty commented on gene: KCNA1: 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 KCNA1 Louise Daugherty commented on gene: KCNA1: 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 KCNA1 James Polke commented on gene: KCNA1: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Episodic ataxia 1 onset in childhood
Adult onset dystonia, chorea or related movement disorder v0.54 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 KCNA1 James Polke reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Adult onset dystonia, chorea or related movement disorder v0.51 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Adult onset dystonia, chorea or related movement disorder v0.2 KCNA1 Ellen McDonagh gene: KCNA1 was added
gene: KCNA1 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to EPISODIC ATAXIA, TYPE 1; myokymia with periodic ataxia