Repeat Disorders

STR: FXS

Green List (high evidence)

Chromosome: X
GRCh37 Position: 146993569-146993628
GRCh38 Position: 147912051-147912110
Repeated Sequence: CGG
Normal Number of Repeats: < or = 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 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 list
Created: 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 Relevant

Interruptions 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: < or =
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
paediatric-onset
OMIM
309550
Clinvar variants
Variants in FMR1
Penetrance
None
Publications

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag paediatric-onset tag was added to STR: FXS.

28 Aug 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for STR: FXS were set to 33795824; 25227148

15 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fxs has been classified as Green List (High Evidence).

15 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: fxs has been classified as Green List (High Evidence).

15 Aug 2021, Gel status: 1

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