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Suggest Edit for Locus FAME3_MARCHF6
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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
Overall FAME prevalence is < 1/35,000; MARCHF6-caused much smaller. Most cases have European 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
Healthy controls do not have pathogenic allele (TTTCA), but do have 9-20 benign motifs (TTTTA) [@genereviews:NBK535148]. Alleles from six probands spanned from 791-1035 repeats; an inverse relationship between allele size and age of onset was noted [@pmid:31664039].
Mechanism
Mechanism Detail
Noted as unknown in literature [@omim:613608].
Year
Location in Gene
Gene Strand
+
Locus Tags
supported_evidence
somatic_instability
motif_affects_onset
motif_affects_penetrance
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
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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/loci/fame3_marchf6/edit/
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