Adult onset movement disorderGene: TH
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.
Created: 13 Aug 2019, 11:57 a.m. | Last Modified: 13 Aug 2019, 11:57 a.m.
Panel Version: 0.100
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
Created: 13 Aug 2019, 11:48 a.m. | Last Modified: 13 Aug 2019, 11:48 a.m.
Panel Version: 0.99
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Segawa syndrome (onset in infancy of dopa-responsive dystonia): onset in infancy or early childhood
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Suggested by Huw and Raquel - childhood onset
Created: 23 Apr 2019, 1:13 p.m.
Source Expert Review Red was added to TH. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to TH.
Source London North GLH was added to TH.
gene: TH was added gene: TH was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/ Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; infantile parkinsonism; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407