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Suggest Edit for Locus DM1_DMPK
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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
5-20/100,000 [@genereviews:NBK1165]. 0.5-18.1/100,000 [@pmid:29100084]; 6.5/100,000 [@pmid:31159885]. 9.27 cases (95% CI: 4.73-15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000 [@pmid:35483324]. Found across ethnicities/ancestries, with population-dependent prevalence [@genereviews:NBK1165].
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
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Locus Details
Overview of disease locus through 2024, including largest pathogenic allele of 4,000, described in Rimoldi et al review [@pmid:39643839]. Intermediate alleles (35-49) associated with premutation [@genereviews:NBK1165]. 3%-8% of DM1 expansions contain interrupting variant repeats such as CCG and CGG, associated with later onset and milder phenotype; the variant repeat GCGGCA has also been reported [@pmid:32851192; @doi:10.1016/j.mcp.2024.102005]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients [@pmid:35741732]. Expansions within gene ZNF850 may function as DM1 modifiers [@doi:10.1093/hmg/ddae186].
Mechanism
Mechanism Detail
RNA gain-of-function: RNA gelation leading to misregulation of alternative splicing [@pmid:36169768]. Expanded-repeat RNA sequesters the muscleblind-like (MBNL) family of RNA-binding proteins as part of the disruption of pre-mRNA processing, contributing to cardiac phenotypes [@pmid:39932794]. Loss of MBNL proteins has been linked to mis-splicing of Autism spectrum-risk genes such as SCN2A, ANK2, and SHANK2, possibly leading to Autism-related traits [@pmid:40259070]
Year
Location in Gene
Gene Strand
-
Locus Tags
supported_evidence
somatic_instability
anticipation
maternal_expansion
length_affects_onset
length_affects_phenotype
length_affects_severity
motif_affects_instability
motif_affects_onset
motif_affects_phenotype
motif_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
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Benign Min
Benign Max
Intermediate Min
Intermediate Max
Pathogenic Min
Pathogenic Max
Motif Length
Reference Copies
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IDs
GARD
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GeneReviews
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MedGen
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MONDO
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OMIM
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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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