Adult onset movement disorderGene: COX10
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: mitochondrial disorder - not a movement disorder
Created: 13 Aug 2019, 11:38 a.m. | Last Modified: 13 Aug 2019, 11:38 a.m.
Panel Version: 0.98
Source Expert Review Red was added to COX10. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to COX10.
Source London North GLH was added to COX10.
Phenotypes for gene: COX10 were changed from to Leigh syndrome due to mitochondrial COX4 deficiency, 256000; Mitochondrial complex IV deficiency, 220110
gene: COX10 was added gene: COX10 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX10 were set to 10767350