Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset
Motif length–
75 loci
ABCD3OPDM5Oculopharyngodistal myopathy type 5chr1:94418421-94418444
GCC
AD
AFF2FRAXEFragile X syndrome, FRAXE typechrX:148500604-148500753
GCC
XR
AFF3FRA2AIntellectual disability associated with fragile site FRA2Achr2:100104798-100104824
GCC
AD
ARSBMASpinal and bulbar muscular atrophy, Kennedy DiseasechrX:67545316-67545419
GCA
XR
ARXEIEE1Early-infantile epileptic encephalopathychrX:25013649-25013697
NGC
XR
ARXPRTSPartington syndromechrX:25013529-25013565
NGC
XR
ATN1DRPLADentatorubral-Pallidoluysian Atrophychr12:6936716-6936775
CAG
AD
ATXN1SCA1Spinocerebellar ataxia type 1chr6:16327633-16327724
CTG
AD
ATXN10SCA10Spinocerebellar ataxia type 10chr22:45795354-45795424
ATTCT
AD
ATXN2SCA2Spinocerebellar ataxia type 2chr12:111598949-111599019
CTG
AD/AR
ATXN3SCA3, MJDSpinocerebellar ataxia type 3/Machado-Joseph diseasechr14:92071010-92071052
CTG
AD
ATXN7SCA7Spinocerebellar ataxia type 7chr3:63912684-63912715
CAG
AD
ATXN8OSSCA8Spinocerebellar ataxia type 8chr13:70139383-70139429
CTG
AD
BEAN1SCA31Spinocerebellar ataxia type 31chr16:66490396-66490466
TGGAA, TAGAA
AD
C9orf72FTDALS1Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS)chr9:27573484-27573546
GGCCCC
AD
CACNA1ASCA6Spinocerebellar ataxia type 6chr19:13207858-13207898
CTG
AD
CBLJBSJacobsen syndrome (FRAX11B fragile site)chr11:119206289-119206323
CGG
AD
CNBPDM2Myotonic dystrophy type 2chr3:129172576-129172656
CAGG
AD
COMPEDM1, PSACHMultiple epiphyseal dysplasia, Pseudoachondroplasiachr19:18786034-18786050
GTC
AD
CSTBEPM1Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)chr21:43776442-43776479
CGCGGGGCGGGG
AR
DAB1SCA37Spinocerebellar ataxia type 37chr1:57367043-57367121
GAAAT
AD
DIP2BFRA12AIntellectual developmental disorder, FRA12A typechr12:50505001-50505024
GGC
AD
DMDDMDDuchenne muscular dystrophychrX:31284557-31284605
TTC
XR
DMPKDM1Myotonic dystrophy type 1chr19:45770204-45770266
CAG
AD
EIF4A3RCPSRichieri-Costa-Pereira syndromechr17:80147009-80147139
CCTCGCTGTGCCGCTGCCGA
AR
FGF14SCA27BSpinocerebellar ataxia 27Bchr13:102161574-102161726
GAA
AD
FMR1FXS, FXTAS, POF1Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1chrX:147912049-147912111
CGG
XD
FOXL2BPESBlepharophimosis, epicanthus inversus, and ptosischr3:138946019-138946062
NGC
AD/AR
FXNFRDAFriedreich ataxiachr9:69037286-69037304
GAA
AR
GIPC1OPDM2Oculopharyngodistal myopathy type 2chr19:14496041-14496075
CCG
AD
GLSGDPAGGlutaminase deficiencychr2:190880872-190880920
GCA
AR
HOXA13HFG-IHand-foot-genital syndrome 1chr7:27199924-27199966
NGC
AD
HOXA13HFG-IIHand-foot-genital syndrome 2chr7:27199825-27199861
NGC
AD
HOXA13HFG-IIIHand-foot-genital syndrome 3chr7:27199678-27199732
NGC
AD
HOXD13SD5Syndactylychr2:176093058-176093103
GCN
AD
HTTHDHuntington diseasechr4:3074876-3074933
CAG
AD
JPH3HDL2Huntington disease-like 2chr16:87604282-87604329
CTG
AD
LRP12OPDM1Oculopharyngodistal myopathy type 1chr8:104588970-104588999
CGC
AD
MARCHF6FAME3Familial adult myoclonic epilepsy type 3chr5:10356343-10356411
TTTCA
AD
MIR7-2CHNG3Nongoitrous congenital hypothyroidism-3chr15:88569433-88569452
TTTG
AD
MUC1ADTKDAutosomal dominant tubulointerstitial kidney diseasechr1:155188505-155192239
GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCA
AD
NAXENMENAXE-related mitochondrial encephalopathychr1:156591765-156591783
GGGCC
AR
NIPA1ALS1Amyotrophic lateral sclerosischr15:22786677-22786703
GCG
AD
NOP56SCA36Spinocerebellar ataxia type 36chr20:2652732-2652757
GGCCTG
AD
NOTCH2NLCNIIDNeuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3chr1:149390802-149390842
GGC
AD
NUTM2B-AS1OPML1Oculopharyngeal myopathy with leukoencephalopathy 1chr10:79826383-79826404
GGC
AD
PABPN1OPMDOculopharyngeal muscular dystrophychr14:23321472-23321503
GCN
AD/AR
PHOX2BCCHSCongenital central hypoventilation syndromechr4:41745972-41746032
GCN
AD
PLIN4MRUPAVMyopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathychr19:4510727-4513659
TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC
AD
POLGCPEOProgressive external ophthalmoplegia, Parkinson's diseasechr15:89333588-89333629
GCT
PPP2R2BSCA12Spinocerebellar ataxia type 12chr5:146878727-146878759
GCT
AD
PRDM12HSAN VIIIHereditary sensory and autonomic neuropathy type VIIIchr9:130681605-130681641
GCC
AR
PRNPCJDCreutzfeldt-Jakob diseasechr20:4699397-4699493
CCTCATGGTGGTGGCTGGGGGCAG
AD
RAI1FAME8Familial adult myoclonic epilepsy type 8chr17:17808358-17808460
TTTCA
AD
RAPGEF2FAME7Familial adult myoclonic epilepsy type 7chr4:159342526-159342618
TTTCA
AD
RFC1CANVASCerebellar ataxia, neuropathy, and vestibular areflexia syndromechr4:39348424-39348483
AAGGG, ACAGG, AGGGC, AAGGC, AGAGG
AR
RILPL1OPDM4Oculopharyngodistal myopathy type 4chr12:123533720-123533750
GGC
AD
RUNX2CCDCleidocranial dysplasiachr6:45422750-45422801
GCN
AD
SAMD12FAME1Familial adult myoclonic epilepsy type 1chr8:118366812-118366918
TGAAA
AD
SOX3XLMRX-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormonechrX:140504316-140504361
NGC
XR
STARD7FAME2Familial adult myoclonic epilepsy 2chr2:96197066-96197124
AAATG
AD
TAF1XDPX-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3)chrX:71453054-71453131
AGAGGG
XR
TBPSCA17Spinocerebellar ataxia type 17chr6:170561906-170562017
GCA
AD
TBX1TOFTetralogy of Fallotchr22:19766762-19766807
GCN
AD
TCF4FECD3Fuchs endothelial corneal dystrophy 3chr18:55586153-55586229
CAG
AD
THAP11SCASpinocerebellar ataxiachr16:67842862-67842950
CAG
AD
TNRC6AFAME6Familial adult myoclonic epilepsy type 6chr16:24613438-24613532
TTTCA
AD
TYMSCPUMCongenital Progressive Universal Melanosischr18:666891-667632
GATGGT
AR
VWA1HMNR7Neuronopathy, distal hereditary motor, autosomal recessive 7chr1:1435798-1435818
GGCGCGGAGC
AR
XYLT1DBQD2, BSSBaratela-Scott Syndrome/Desbuquois dysplasia 2chr16:17470907-17470922
GCC
AR
YEATS2FAME4Familial adult myoclonic epilepsy 4chr3:183712187-183712226
TTTCA
AD
ZFHX3SCA4Spinocerebellar ataxia 4chr16:72787694-72787758
GCC
AD
ZIC2HPE5Holoprosencephaly-5chr13:99985448-99985494
GCN
AD
ZIC3VACTERLXX-linked VACTERL syndromechrX:137566826-137566856
GCN
XR
ZNF713FRA7AAutism spectrum disorder associated with fragile site FRA7Achr7:55887600-55887639
GCG
AD
75 rows

Downloads

TRGT definitions
for genotyping in PacBio HiFi reads hg19hg38T2T-chm13 Extended BED format
for filtering genomic data hg19hg38T2T-chm13

Plots

High-level, visual overview of loci.

Pathogenic Size Range

110100100010kFAME4SCA10FAME3SCA36MRUPAVFAME6GDPAGCANVASFTDALS1FAME2FRA7ACPUMNMESCA27BFRA2AFRA12AFRAXEFXS, FXTAS, POF1SCA31FAME1OPML1EPM1OPDM4OPDM5JBSDM2FAME7RCPSOPDM1OPDM2DBQD2, BSSSCA8XDPNIIDSCA3, MJDDMDFRDASCA37SCA12FECD3DM1SCA17DRPLASCA4SCAHDL2CJDSCA1SBMASCA7HDSCA2CCHSTOFHPE5HFG-IHFG-IIISD5XLMRSCA6PRTSCCDHFG-IIHSAN VIIIEIEE1BPESFAME8OPMDVACTERLXALS1EDM1, PSACHCHNG3HMNR7CPEO
Allele sizeBenignIntermediatePathogenicAllele size in base pairsDisease

Age of Onset

020406080FECD3CJDSCA36ALS1FAME6MRUPAVSCA27BFTDALS1OPMDCANVASADTKDFAME7SCA37SCA6OPML1OPDM2XDPSCA4HDL2SCA10FAME3FAME4NIIDOPDM5OPDM4SCA31SCA12FAME1SBMAFAME8OPDM1SCA1EPM1DMDSCAFAME2SCA17EDM1, PSACHSCA3, MJDSCA2FRDAGDPAGFRA7AHDFRA2AFRAXENMEDM2SCA8DRPLADM1XLMRSCA7EIEE1PRTSFRA12ACCHSFXS, FXTAS, POF1HMNR7
InheritanceADARXDXRAge of onset (years)Disease
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