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Suggest Edit for Locus DM2_CNBP
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Overview
ID
Disease ID
Gene
Disease
Disease
Inheritance
Type
AD
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Disease Description
HPO Terms
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Prevalence
Prevalence Details
2.29/100,000 [@pmid:35483324]; population specific prevalence [@genereviews:NBK1466]. Most cases have European ancestry, but disease has been reported worldwide [@genereviews:NBK1466].
Age of Onset
Min Age Onset
Max Age Onset
Min Typical Age Onset
Max Typical Age Onset
Disease Tags
myotonic_dystrophy
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Locus
Chromosome
Start (hg38)
Stop (hg38)
Start (hg19)
Stop (hg19)
Start (T2T)
Stop (T2T)
Locus Details
Detailed overview of disease locus through 2024 by Rimoldi et al [@pmid:39643839]. ≤30 uninterrupted CCTG repeats or 11-26 CCTG repeats with GCTC/TCTG interruptions are considered benign; 27-29 repeats with interruptions have currently unknown significance, ~30-~54 repeats are considered premutations, ~55-74 repeats are premutations with possible reduced penetrance, and >74 repeat alleles are considered pathogenic [@genereviews:NBK1466]. Penetrance is age-dependent and approaches 100%. Locus structure is (TG)n(TCTG)n(CCTG)n. CCTG expansion causes DM2 but the other repeat units are also variable. Interruptions include GCTG/TCTG/GGCT [@pmid:35245110]. The effect of the (TCTG)n repeat remains to be determined, but it is potentially common in the repeat structure of this locus [@pmid:39703464].
Mechanism
Mechanism Detail
Aberrant splicing, RAN translation [@pmid:22140091; @pmid:38467784].
Year
Location in Gene
Gene Strand
-
Locus Tags
supported_evidence
somatic_instability
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
Motif
Count
Type
pathogenic_repeat
Motif
Count
Type
flank_repeat
Motif
Count
Type
flank_repeat
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Benign Min
Benign Max
Intermediate Min
Intermediate Max
Pathogenic Min
Pathogenic Max
Motif Length
Reference Copies
Novel
ref
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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