Neurodegenerative disorders - adult onsetRegion: ISCA-37478-Loss
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
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, 12:49 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, 4:16 p.m. | Last Modified: 23 Jul 2019, 4:44 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, 1:31 p.m.
Region: isca-37478-loss has been removed from the panel.
Source NHS GMS was added to Region: ISCA-37478-Loss.
Source London North GLH was added to Region: ISCA-37478-Loss. Added phenotypes 105830; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37478-Loss
Checked panel against panel constituents. Ready to promote to version 1
Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation