Hereditary ataxiaSTR: FMR1_CGG
Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 6 Dec 2018, 10:25 a.m.
The normal number of Repeats was changed from 44 to 55.
Created: 6 Jun 2018, 1:48 p.m.
Comments from Arianna Tucci: females with premutation or full mutation alleles can transmit full mutations to their offspring, while men with premutation or full mutation alleles can only pass on a premutation allele.
Created: 31 May 2018, 1:40 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fragile X syndrome 300624
Variants in this STR are reported as part of current diagnostic practiceClinically Relevant
Interruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: fmr1_cgg has been removed from the panel.
Normal Number of Repeats for FMR1_CGG was changed from 44 to 55. Panel: Hereditary ataxia
STR was added to STR: FMR1_CGG. Panel: Hereditary ataxia
STR: FMR1_CGG was added to Hereditary ataxia panel. Sources: Expert list
STR: FMR1_CGG was created by Ellen McDonagh