Hypertrophic cardiomyopathy - teen and adultSTR: FXN_GAA
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
Friedreich ataxia 229300
Variants in this STR are reported as part of current diagnostic practice
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