Hereditary ataxia with onset in adulthood
Region: ISCA-37478-Gain15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
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, 1:24 p.m. | Last Modified: 16 Mar 2022, 1:24 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 GreenCreated: 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: Ataxia listed as a common finding in maternally derived duplications (various forms). Do you report variants in this gene as part of your current diagnostic practice? NoCreated: 14 Apr 2019, 4:06 p.m.
Phenotypes
15q duplication syndrome
GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Source NHS GMS was added to Region: ISCA-37478-Gain.
Source Wessex and West Midlands GLH was added to Region: ISCA-37478-Gain. Publications for Region: ISCA-37478-Gain were changed from 18374305; 9106540; 16840569 to 16840569; 18374305; 9106540
Checked panel against panel constituents. Ready to promote to version 1.
Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 18374305; 9106540; 16840569 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