Adult onset dystonia, chorea or related movement disorder
Gene: HTRA2
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 2019Created: 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: 3-methylglutaconic aciduria, type VIII (symptoms include extrapyramidal signs and dystonic posturing): Death in infancyCreated: 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 - onset/death in infancyCreated: 23 Apr 2019, 1:13 p.m.
Source Expert Review Red was added to HTRA2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to HTRA2.
Source London North GLH was added to HTRA2.
gene: HTRA2 was added gene: HTRA2 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HTRA2 were set to 18364387; 27208207; 18401856; 27696117; 23462481; 15961413 Phenotypes for gene: HTRA2 were set to Parkinson Disease, Dominant; Parkinson disease 13, 610297; 3-methylglutaconic aciduria, type VIII 617248