Hereditary neuropathy
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: 1.441
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, 12:15 p.m.
Sources: Expert ReviewCreated: 5 Dec 2018, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2 183090 to Spinocerebellar ataxia 2 183090
Phenotypes for STR: ATXN2_CAG were changed from to Spinocerebellar ataxia 2 183090
Tag STR tag was added to STR: ATXN2_CAG.
Str: atxn2_cag has been classified as Green List (High Evidence).
Str: atxn2_cag has been classified as Green List (High Evidence).
STR: ATXN2_CAG was added STR: ATXN2_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN2_CAG was set to GREEN STR: ATXN2_CAG was marked as current diagnostic