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Suggest Edit for Locus FAME1_SAMD12
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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
FAME overall is 1/35,000 in Japan. Typically found in individuals of East Asian ancestry [@pmid:38876750].
Age of Onset
Min Age Onset
Max Age Onset
Min Typical Age Onset
Max Typical Age Onset
Disease Tags
familial_adult_myoclonic_epilepsy
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Locus
Chromosome
Start (hg38)
Stop (hg38)
Start (hg19)
Stop (hg19)
Start (T2T)
Stop (T2T)
Locus Details
Novel, pathogenic alleles include expansions of TTTTAn + TTTCAn, but only the TTTCA insertion is specific to affected individuals and associated with symptom age of onset [@pmid:39569876]; pathogenic expansions range from 105 to 3860 repeats [@omim:601068; @pmid:29507423]
Mechanism
Mechanism Detail
RNA mediated gain of function proposed [@omim:601068; @pmid:38467784].
Year
Location in Gene
Gene Strand
-
Locus Tags
supported_evidence
somatic_instability
anticipation
motif_affects_instability
motif_affects_onset
motif_affects_penetrance
maternal_expansion
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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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