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Suggest Edit for Locus HFG_HOXA13-I
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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
Extremely rare, published cases generally European ancestry or unknown [@pmid:15385446; @pmid:17935235; @genereviews:NBK1423].
Age of Onset
Min Age Onset
Max Age Onset
Min Typical Age Onset
Max Typical Age Onset
Disease Tags
hand_foot_genital_syndrome
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Locus
Chromosome
Start (hg38)
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Start (hg19)
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Locus Details
Anticipation does not occur, and expansions appear fully penetrant [@genereviews:NBK1423].
Mechanism
Mechanism Detail
Polyalanine expansions leading to haploinsufficiency [@genereviews:NBK1423]
Year
Location in Gene
Gene Strand
-
Locus Tags
limited_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
Novel
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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/hfg_hoxa13-i/edit/
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