Hereditary ataxia with onset in adulthood
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: 2.147
New STR submitted and discussed with GLHs for the GMS Neurology Specialist Test Group, who agreed that there is sufficient evidence to rate this STR Green on this panel.
Sources: Expert listCreated: 1 Oct 2020, 12:55 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
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
Str: fmr1_cgg has been classified as Green List (High Evidence).
STR: FMR1_CGG was added STR: FMR1_CGG was added to Hereditary ataxia - adult onset. Sources: Expert list STR tags were added to STR: FMR1_CGG. Mode of inheritance for STR: FMR1_CGG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for STR: FMR1_CGG were set to Fragile X syndrome, 300624 Review for STR: FMR1_CGG was set to GREEN