Hereditary spastic paraplegia - childhood onsetSTR: FXN_GAA
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 1:05 p.m. | Last Modified: 15 Mar 2022, 1:05 p.m.
Panel Version: 2.130
onset in childhood
Created: 26 Feb 2019, 11:20 a.m.
STR reviewed and discussed at the GMS Neurology Specialist Test Group Webex on 17th May. Agreed to leave rating as Green.
Created: 22 May 2019, 11:10 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, 4:21 p.m.
Source PanelApp panels : Hereditary spastic paraplegia Version 1.141
Sources: Expert list
Created: 21 Dec 2018, 2:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Friedreich ataxia 229300
Source NHS GMS was added to STR: FXN_GAA.
Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Louise Daugherty: Source PanelApp panels : Hered
Str: fxn_gaa has been classified as Green List (High Evidence).
STR: FXN_GAA was added STR: FXN_GAA was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN