Hereditary neuropathy
STR: ATXN10_ATTCTSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:44 a.m. | Last Modified: 15 Mar 2022, 11:44 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, 1:14 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, 1:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Str: atxn10_attct has been classified as Green List (High Evidence).
Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source NHS GMS was added to STR: ATXN10_ATTCT. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10 603516
Phenotypes for STR: ATXN10_ATTCT were changed from to Spinocerebellar ataxia 10 603516
Tag STR tag was added to STR: ATXN10_ATTCT.
Str: atxn10_attct has been classified as Green List (High Evidence).
Str: atxn10_attct has been classified as Green List (High Evidence).
STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary neuropathy. Sources: Expert Review Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted