Childhood onset hereditary spastic paraplegia
STR: TBP_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 3:59 p.m. | Last Modified: 15 Mar 2022, 3:59 p.m.
Panel Version: 2.130
Comment on list classification: STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May Agreed to change the rating from Green to Amber.Created: 22 May 2019, 12:01 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert listCreated: 21 Dec 2018, 2:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 17 607136
Source NHS GMS was added to STR: TBP_CAG.
Phenotypes for STR: TBP_CAG were changed from Spinocerebellar ataxia 17 607136 to Spinocerebellar ataxia 17, OMIM:607136
Str: tbp_cag has been classified as Amber List (Moderate Evidence).
Louise Daugherty: Source PanelApp panels : Hered
Str: tbp_cag has been classified as Green List (High Evidence).
STR: TBP_CAG was added STR: TBP_CAG was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: TBP_CAG. Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136 Review for STR: TBP_CAG was set to GREEN