Hereditary ataxia
STR: ATXN3_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:13 p.m. | Last Modified: 15 Mar 2022, 12:13 p.m.
Panel Version: 1.298
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, 12:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Machado-Joseph disease 109150
Variants in this STR are reported as part of current diagnostic practice
Str: atxn3_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN3_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN3_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease, OMIM:109150
Str: atxn3_cag has been classified as Green List (High Evidence).
Str: atxn3_cag has been classified as Green List (High Evidence).
STR was added to STR: ATXN3_CAG. Panel: Hereditary ataxia
STR: ATXN3_CAG was added to Hereditary ataxia panel. Sources: Expert list
STR: ATXN3_CAG was created by Ellen McDonagh