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Suggest Edit for Locus OPDM4_RILPL1
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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
Population dependent: 21.6% of one OPDM cohort [@pmid:35148830]. Typically found in individuals of East Asian ancestry [@pmid:38876750].
Age of Onset
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Disease Tags
oculopharyngodistal_myopathy
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Locus
Chromosome
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Locus Details
Benign alleles have been documented to have 6-16 repeats [@pmid:37864208], while pathogenic repeats range from 120 to 197 repeats; there is no apparent relationship between allele size and age of onset [@pmid:37864208; @pmid:35148830]. Intermediate alleles amy be associated with incomplete penetrance, or milder phenotypes [@pmid:35148830]. AGG and TGG interruptions observed [@pmid:35148830].
Mechanism
Mechanism Detail
Polyglutamine expansion leading to RNA-mediated gain-of-function mechanism [@pmid:38467784].
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Location in Gene
Gene Strand
-
Locus Tags
supported_evidence
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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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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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/loci/opdm4_rilpl1/edit/
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