Adult onset hereditary spastic paraplegia
STR: ATXN10_ATTCTThe rating of this STR has been updated to green after review of STRs on panels that have moved to WGS in phase 2 and NHS Genomic Medicine Service approval.Created: 31 Jul 2023, 1:53 p.m. | Last Modified: 31 Jul 2023, 1:53 p.m.
Panel Version: 3.14
It is recommended this STR be promoted to Green following GMS review, as the testing method for this clinicial indication is now WGS.Created: 29 Jun 2023, 4:40 p.m. | Last Modified: 29 Jun 2023, 4:40 p.m.
Panel Version: 3.10
STR 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: 1.95
Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.Created: 6 Oct 2020, 10:38 a.m. | Last Modified: 6 Oct 2020, 10:38 a.m.
Panel Version: 1.9
STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019, agreed to leave rating as Green.Created: 22 May 2019, 12:06 p.m.
Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?Created: 26 Apr 2019, 1:07 p.m.
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
Sources: Expert listCreated: 26 Apr 2019, 11:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 10 603516
Str: atxn10_attct has been classified as Green List (High Evidence).
Tag watchlist was removed from STR: ATXN10_ATTCT. Tag Q3_23_promote_green was removed from STR: ATXN10_ATTCT.
Tag Q3_23_promote_green tag was added to STR: ATXN10_ATTCT.
Tag for-review was removed from STR: ATXN10_ATTCT.
Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33.
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Tag watchlist tag was added to STR: ATXN10_ATTCT.
Tag for-review tag was added to STR: ATXN10_ATTCT.
Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to STR: ATXN10_ATTCT.
Source South West GLH was added to STR: ATXN10_ATTCT.
Source London North GLH was added to STR: ATXN10_ATTCT.
Source Expert Review Green was added to STR: ATXN10_ATTCT. Rating Changed from Red List (low evidence) to Green List (high evidence)
STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list STR tags were added to STR: ATXN10_ATTCT. Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516 Review for STR: ATXN10_ATTCT was set to GREEN