Hereditary ataxia with onset in adulthood
Region: ISCA-37478-Loss15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) 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, 12:21 p.m. | Last Modified: 16 Mar 2022, 12:21 p.m.
Panel Version: 2.148
CNV missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. 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 GreenCreated: 1 Aug 2019, 1:47 p.m. | Last Modified: 1 Aug 2019, 1:47 p.m.
Panel Version: 1.183
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.
GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728. Triplosensitivity Score for ISCA-37478-Loss was changed from None to . Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.
Triplosensitivity Score for ISCA-37478-Loss was changed from to None. Source Hereditary ataxia v1.148 was removed from Region: ISCA-37478-Loss. Source NHS GMS was added to 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 Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105830