Hereditary spastic paraplegia - adult onset
STR: ATXN10_ATTCTComment 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
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