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Suggest Edit for Locus FXS_FMR1
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Overview
ID
Disease ID
Gene
Disease
Disease
Inheritance
Type
XD
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Disease Description
HPO Terms
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Prevalence
Prevalence Details
Incidence of full mutation in males 19/100,000; prevalence 14/100,000 [@genereviews:NBK1384]. Female prevalence 9/100,000 [@pmid:24700618]. Known carrier frequency is approximately 300-500/100,000 but detected was 11/100,000 [@pmid:29100084]. FXS prevalence 1:7000 males, 1:11,000 females; FX premutation carriers 1:290-855 males, 1:148-300 females [@isbn:978-3-031-66932-3]. Found worldwide [@genereviews:NBK1384]. In Thailand, 1 in 600 women carry a premutation, and 1 in 400 carry a 'gray zone' allele [@pmid:39320553].
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Min Age Onset
Max Age Onset
Min Typical Age Onset
Max Typical Age Onset
Disease Tags
phenotypic_spectrum
ataxia
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Locus
Chromosome
Start (hg38)
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Start (hg19)
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Locus Details
Intermediate or 'gray zone' occur at 45-54 alleles and may be unstable enough to expand into the premutation range, as well as associate with parkinsonism [@pmid:32463542; @genereviews:NBK1384]. FXTAS/POI occurs at 55-200 repeats, FXS >200, late onset; AGG and CTG interruptions documented [@genereviews:NBK1384; @pmid:29868108].
Mechanism
Mechanism Detail
Loss of function via transcriptional silencing in FXS, RNA gain of function in FXTAS/FXPOI [@pmid:16205714; @pmid:36169768].
Year
Location in Gene
Gene Strand
+
Locus Tags
supported_evidence
somatic_instability
anticipation
maternal_expansion
length_affects_onset
length_affects_penetrance
length_affects_phenotype
length_affects_severity
motif_affects_instability
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Alleles
Reference Motif (Reference Orientation)
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Pathogenic Motif (Reference Orientation)
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Benign Motif (Reference Orientation)
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Unknown Motif (Reference Orientation)
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Locus Structure
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Benign Min
Benign Max
Intermediate Min
Intermediate Max
Pathogenic Min
Pathogenic Max
Motif Length
Reference Copies
Novel
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IDs
GARD
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GeneReviews
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MalaCard
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MedGen
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MONDO
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OMIM
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Orphanet
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gnomAD
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STRIpy
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Tandem Repeat Atlas
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WebSTR
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WebSTR
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References
References
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