Neurodegenerative disorders - adult onsetSTR: FXN_GAA
Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Neurodegeneration not feature of disease.
Created: 23 Jul 2019, 4:56 p.m. | Last Modified: 23 Jul 2019, 4:56 p.m.
Panel Version: 1.75
Source PanelApp panels : Hereditary spastic paraplegia v1.143, Hereditary ataxia v1.150
Sources: Expert list
Created: 21 Dec 2018, 9:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Friedreich ataxia 229300
Source Yorkshire and North East GLH was added to STR: FXN_GAA.
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 Neurodegenerative disorders - adult 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