Repeat Disorders
STR: FXS
HGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]
Loss of function through methylation silencing of FMR1 is associated with the FXS phenotype. Intermediate (gray zone, inconclusive, borderline): ~45 to ~54 repeats
Premutation - risk of FXTAS: ~55 to ~200 repeats
Full mutation - fragile X syndrome (FXS): >200
Sources: Expert listCreated: 15 Aug 2021, 6:07 a.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 MIM#300624
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Tag paediatric-onset tag was added to STR: FXS.
Publications for STR: FXS were set to 33795824; 25227148
Str: fxs has been classified as Green List (High Evidence).
Str: fxs has been classified as Green List (High Evidence).
STR: FXS was added STR: FXS was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: FXS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for STR: FXS were set to 33795824; 25227148 Phenotypes for STR: FXS were set to Fragile X syndrome MIM#300624 Review for STR: FXS was set to GREEN STR: FXS was marked as clinically relevant