Hereditary ataxia with onset in adulthood
STR: FXN_GAASTR 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: 2.147
Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR GreenCreated: 5 Aug 2019, 3:12 p.m. | Last Modified: 5 Aug 2019, 3:12 p.m.
Panel Version: 1.194
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Needs care with filtering here - SNVs in compound het with expansion can be pathogenic. Needs availability of a mixed STR/SNV model for inheritance OR no filtering of single LoF variants. Do you report variants in this gene as part of your current diagnostic practice? NoCreated: 14 Apr 2019, 4:10 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert listCreated: 21 Dec 2018, 1:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia 229300
Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Source London North GLH was added to STR: FXN_GAA.
Source Wessex and West Midlands GLH was added to STR: FXN_GAA.
Source NHS GMS was added to STR: FXN_GAA. Rating Changed from Green List (high evidence) to Green List (high evidence)
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 ataxia - 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