Hereditary ataxia
STR: FMR1_CGGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:51 p.m. | Last Modified: 15 Mar 2022, 12:51 p.m.
Panel Version: 1.298
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)
Phenotypes
Fragile X syndrome 300624
Variants in this STR are reported as part of current diagnostic practice
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Source NHS GMS was added to STR: FMR1_CGG.
Phenotypes for STR: FMR1_CGG were changed from Fragile X syndrome 300624 to Fragile X tremor/ataxia syndrome, OMIM:300623
Tag curated_removed tag was added to STR: FMR1_CGG.
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