Hereditary ataxia
STR: FXN_GAASTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:03 p.m. | Last Modified: 15 Mar 2022, 1:03 p.m.
Panel Version: 1.298
Comment when marking as ready: Marked as ready following the Webex discussion with experts from the GMCs (6/09/2018) about feeding back STR resultsCreated: 4 Dec 2018, 1:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this STR are reported as part of current diagnostic practice
Comments from Arianna Tucci: It is possible that incomplete penetrance is associated with borderline alleles and expanded alleles containing fewer than 100 GAA repeats. Individuals with a borderline allele and a full-penetrance allele may develop LOFA/VLOFA.Created: 31 May 2018, 3:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Friedreich ataxia 229300
Variants in this STR are reported as part of current diagnostic practice
Str: fxn_gaa has been classified as Green List (High Evidence).
Source NHS GMS was added to STR: FXN_GAA. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Normal Number of Repeats for FXN_GAA was changed from 42 to 44. Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: fxn_gaa has been classified as Green List (High Evidence).
Str: fxn_gaa has been classified as Green List (High Evidence).
Str: fxn_gaa has been classified as Green List (High Evidence).
Normal Number of Repeats for FXN_GAA was changed from 33 to 42.
Gene was set to FXN. Panel: Hereditary ataxia
STR was added to STR: FXN_GAA. Panel: Hereditary ataxia
STR: FXN_GAA was added to Hereditary ataxia panel. Sources: Expert list
STR: FXN_GAA was created by Ellen McDonagh