Parkinson Disease and Complex Parkinsonism
STR: ATXN2_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:47 a.m. | Last Modified: 15 Mar 2022, 11:47 a.m.
Panel Version: 1.105
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 5 Dec 2018, 10:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2 183090
Variants in this STR are reported as part of current diagnostic practice
Str: atxn2_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN2_CAG was changed from 31 to 32. Pathogenic Number of Repeats for ATXN2_CAG was changed from 33 to 35. Source NHS GMS was added to STR: ATXN2_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Str: atxn2_cag has been classified as Green List (High Evidence).
Str: atxn2_cag has been classified as Green List (High Evidence).
STR was added to STR: ATXN2_CAG. Panel: Parkinson Disease and Complex Parkinsonism
STR: ATXN2_CAG was added to Parkinson Disease and Complex Parkinsonism panel. Sources: Expert list
STR: ATXN2_CAG was created by Ellen McDonagh