Repeat Disorders
STR: FXSGRCh37 Position: 146993569-146993628
GRCh38 Position: 147912051-147912110
Repeated Sequence: CGG
Normal Number of Repeats: < 44
Pathogenic Number of Repeats: = or > 200
FMR1 (fragile X mental retardation 1)
EnsemblGeneIds (GRCh38): ENSG00000102081
EnsemblGeneIds (GRCh37): ENSG00000102081
OMIM: 309550, Gene2Phenotype
FMR1 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Name
- FXS
- Chromosome
- X
- GRCh37 Coordinates
- 146993569-146993628
- GRCh38 Coordinates
- 147912051-147912110
- Repeated Sequence
- CGG
- Normal Number of Repeats: <
- 44
- Pathogenic Number of Repeats: = or >
- 200
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Fragile X syndrome MIM#300624
- Tags
- OMIM
- 309550
- Clinvar variants
- Variants in FMR1
- Penetrance
- None
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: FXS.
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for STR: FXS were set to 33795824; 25227148
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fxs has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: fxs has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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