Neurodegenerative disorders - adult onsetRegion: ISCA-37478-Gain
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.
Created: 19 Aug 2020, 8:25 a.m. | Last Modified: 20 Aug 2020, 12:50 p.m.
Panel Version: 2.12
No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Created: 23 Jul 2019, 4:15 p.m. | Last Modified: 23 Jul 2019, 4:45 p.m.
Panel Version: 1.75
Red rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 1:30 p.m.
Tag curated_removed tag was added to Region: ISCA-37478-Gain.
Region: isca-37478-gain has been removed from the panel.
Source NHS GMS was added to Region: ISCA-37478-Gain.
Source London North GLH was added to Region: ISCA-37478-Gain. Publications for Region: ISCA-37478-Gain were changed from 16840569; 9106540; 18374305 to 18374305; 9106540; 16840569
Checked panel against panel constituents. Ready to promote to version 1
Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome