Hypertrophic cardiomyopathy
STR: FXN_GAASTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 1:04 p.m. | Last Modified: 15 Mar 2022, 1:04 p.m.
Panel Version: 2.38
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.Created: 5 Dec 2018, 6:50 p.m.
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
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; Friedreich ataxia 1 MONDO:0100340
Tag curated_removed tag was added to STR: FXN_GAA.
Str: fxn_gaa has been removed from the panel.
Normal Number of Repeats for FXN_GAA was changed from 33 to 44.
STR was added to STR: FXN_GAA. Panel: Hypertrophic Cardiomyopathy
STR: FXN_GAA was added to Hypertrophic Cardiomyopathy panel. Sources: Expert list
STR: FXN_GAA was created by Ellen McDonagh