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Suggest Edit for Locus CANVAS_RFC1
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Overview
ID
Disease ID
Gene
Disease
Disease
Inheritance
Type
AR
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Disease Description
HPO Terms
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Prevalence
Prevalence Details
Carrier frequency in European is 0.7-4% and in Chinese Han population is 2.24%; estimated prevalence of 1/20,000 to 1/625 [@genereviews:NBK564656]. Many cases are likely not diagnosed due to heterogeneous presentation [@pmid:39230846]. Observed in multiple ethnicities [@pmid:38876750]; patients diagnosed with European, Chinese Han, and Maori ancestry, as well as found in Japan, Canada, Brazil, the UK, Italy, Germany, and Australia [@genereviews:NBK564656].
Age of Onset
Min Age Onset
Max Age Onset
Min Typical Age Onset
Max Typical Age Onset
Disease Tags
ataxia
phenotypic_spectrum
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Locus
Chromosome
Start (hg38)
Stop (hg38)
Start (hg19)
Stop (hg19)
Start (T2T)
Stop (T2T)
Locus Details
Disease is caused by an insertion of a pathogenic motif, although motif presence is variable and can expand up to 200 repeats without apparently causing a phenotype [@genereviews:NBK564656]. Pathogenic expansions (ranging from 400-2750 pathogenic motifs) may be flanked by other motifs [@genereviews:NBK564656]. For example, (AAAGG)10-25(AAGGG)exp(AAAGG)4-6 [@pmid:32851396]. Motif heterogeneity is common in unaffected individuals [@genereviews:NBK564656], and motif associations are described by Delforge et al [@pmid:38627134]. The pathogenic size threshold appears to differ for the AAAGG motif: AAAGG expansions >= 600 repeats have been observed in CANVAS patients (vs 400 with established pathogenic motif AAGGG), while ~100-380 AAAGG repeats were found in unaffected controls [@pmid:37450567]. Length appears to impact age of onset and disease severity, with particular impact from the smaller allele [@doi:10.1136/jnnp-2024-ABN.259]. Phenotypic spectrum may include Parkinsonism [@pmid:39833204] and chronic cough [@pmid:39811557].
Mechanism
Mechanism Detail
LoF; exact mechanism unknown [@pmid:38467784].
Year
Location in Gene
Gene Strand
-
Locus Tags
supported_evidence
motif_affects_penetrance
length_affects_onset
length_affects_severity
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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
Motif
Count
Type
internal_repeat
Motif
Count
Type
pathogenic_repeat
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Benign Min
Benign Max
Intermediate Min
Intermediate Max
Pathogenic Min
Pathogenic Max
Motif Length
Reference Copies
Novel
novel
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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