Childhood onset hereditary spastic paraplegia
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: 2.130
Onset typically in adulthood, some patients with onset in adolescence (11506407). So far only found in Latin American populationsCreated: 25 Feb 2019, 11:48 a.m.
Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. Agreed to change the rating from Green to Amber.Created: 22 May 2019, 11:08 a.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.Created: 28 Apr 2019, 4:20 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert listCreated: 21 Dec 2018, 1:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 10 603516
Normal Number of Repeats for ATXN10_ATTCT was changed from 32 to 33. Source NHS GMS was added to STR: ATXN10_ATTCT.
Phenotypes for STR: ATXN10_ATTCT were changed from Spinocerebellar ataxia 10 603516 to Spinocerebellar ataxia 10, OMIM:603516
Str: atxn10_attct has been classified as Amber List (Moderate Evidence).
Louise Daugherty: Source PanelApp panels : Hered
Str: atxn10_attct has been classified as Green List (High Evidence).
STR: ATXN10_ATTCT was added STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - childhood 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