Hereditary neuropathy
STR: ATXN3_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:15 p.m. | Last Modified: 15 Mar 2022, 12:15 p.m.
Panel Version: 1.441
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 9:48 a.m.
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, 12:36 p.m.
Added to the panel following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR results
Sources: Expert ReviewCreated: 5 Dec 2018, 12:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Phenotypes for STR: ATXN3_CAG were changed from Machado-Joseph disease 109150 to Machado-Joseph disease 109150
Phenotypes for STR: ATXN3_CAG were changed from to Machado-Joseph disease 109150
Tag STR tag was added to STR: ATXN3_CAG.
Str: atxn3_cag has been classified as Green List (High Evidence).
Str: atxn3_cag has been classified as Green List (High Evidence).
Str: atxn3_cag has been classified as Green List (High Evidence).
STR: ATXN3_CAG was added STR: ATXN3_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STR: ATXN3_CAG was marked as current diagnostic