Hereditary neuropathy
STR: ATXN1_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:41 a.m. | Last Modified: 15 Mar 2022, 11:41 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, 9:47 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, 10:51 a.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, 10:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this STR are reported as part of current diagnostic practice
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: atxn1_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN1_CAG was changed from 35 to 36. Pathogenic Number of Repeats for ATXN1_CAG was changed from 44 to 45. Source NHS GMS was added to STR: ATXN1_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1, OMIM:164400
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Phenotypes for STR: ATXN1_CAG were changed from Spinocerebellar ataxia 1 164400 to Spinocerebellar ataxia 1 164400
Phenotypes for STR: ATXN1_CAG were changed from to Spinocerebellar ataxia 1 164400
Tag STR tag was added to STR: ATXN1_CAG.
Str: atxn1_cag has been classified as Green List (High Evidence).
Str: atxn1_cag has been classified as Green List (High Evidence).
STR: ATXN1_CAG was added STR: ATXN1_CAG was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Review for STR: ATXN1_CAG was set to GREEN STR: ATXN1_CAG was marked as clinically relevant STR: ATXN1_CAG was marked as current diagnostic