Hereditary ataxia - adult onsetRegion: ISCA-37404-Loss
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:54 p.m. | Last Modified: 16 Mar 2022, 12:54 p.m.
Panel Version: 2.148
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green
Created: 5 Aug 2019, 2:20 p.m. | Last Modified: 5 Aug 2019, 2:20 p.m.
Panel Version: 1.194
This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels : Hereditary ataxia v1.148 and Brain channelopathy v1.46.
This region (rated Green) comes from the Hereditary ataxia v1.148 panel and will need to discussed by the Neurology Test Group in July 2019.
Created: 19 Jun 2019, 11:04 a.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Angelman is associated with ataxia, PWS has motor coordination difficulties (Other PWS/AS deletions also appropriate). Do you report variants in this gene as part of your current diagnostic practice? No.
Created: 14 Apr 2019, 4:04 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Angelman syndrome (OMIM 105830) and Prader-Willi syndrome (OMIM 176270)
GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728. Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Source NHS GMS was added to Region: ISCA-37404-Loss.
Source Wessex and West Midlands GLH was added to Region: ISCA-37404-Loss. Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss Publications for Region: ISCA-37404-Loss were changed from 22045295; 7611294 to 7611294; 22045295
Checked panel against panel constituents. Ready to promote to version 1.
Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105831