Loci

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Full Dataset

TRGT definitions for genotyping in PacBio HiFi reads:
hg19 hg38 T2T-chm13

Extended BED format for filtering genomic data:
hg19 hg38 T2T-chm13

Table

Full table of tandem repeat loci associated with Mendelian diseases.

19 loci
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AFF2FRAXEFragile X syndrome, FRAXE typechrX:148500604-148500753
GCC
XR
View
ARSBMASpinal and bulbar muscular atrophy, Kennedy DiseasechrX:67545316-67545419
GCA
XR
View
ATN1DRPLADentatorubral-Pallidoluysian Atrophychr12:6936716-6936775
CAG
AD
View
ATXN1SCA1Spinocerebellar ataxia type 1chr6:16327633-16327724
CTG
AD
View
ATXN2SCA2Spinocerebellar ataxia type 2chr12:111598949-111599019
CTG
AD/AR
View
ATXN3SCA3, MJDSpinocerebellar ataxia type 3/Machado-Joseph diseasechr14:92071010-92071052
CTG
AD
View
ATXN7SCA7Spinocerebellar ataxia type 7chr3:63912684-63912715
CAG
AD
View
CSTBEPM1Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)chr21:43776442-43776479
CGCGGGGCGGGG
AR
View
DMPKDM1Myotonic dystrophy type 1chr19:45770204-45770266
CAG
AD
View
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
View
GIPC1OPDM2Oculopharyngodistal myopathy type 2chr19:14496041-14496075
CCG
AD
View
HTTHDHuntington diseasechr4:3074876-3074933
CAG
AD
View
JPH3HDL2Huntington disease-like 2chr16:87604282-87604329
CTG
AD
View
NOP56SCA36Spinocerebellar ataxia type 36chr20:2652732-2652757
GGCCTG
AD
View
NUTM2B-AS1OPML1Oculopharyngeal myopathy with leukoencephalopathy 1chr10:79826383-79826404
GGC
AD
View
PABPN1OPMDOculopharyngeal muscular dystrophychr14:23321472-23321503
GCN
AD/AR
View
PHOX2BCCHSCongenital central hypoventilation syndromechr4:41745972-41746032
GCN
AD
View
RFC1CANVASCerebellar ataxia, neuropathy, and vestibular areflexia syndromechr4:39348424-39348483
AAGGG, ACAGG, AGGGC, AAGGC, AGAGG
AR
View
THAP11SCASpinocerebellar ataxiachr16:67842862-67842950
CAG
AD
19 rows

Plots

High-level, visual overview of loci.

Pathogenic Size Range

110100100010kFAME4SCA10FAME3SCA36FAME6GDPAGCANVASFTDALS1FAME2FRA7ANMESCA27BFRA2AFRA12AFRAXEFXS, FXTAS, POF1SCA31FAME1OPML1EPM1OPDM4OPDMJBSDM2FAME7RCPSOPDM1OPDM2DBQD2, BSSSCA8XDPNIIDSCA3, MJDFRDASCA37SCA12FECD3DM1SCA17DRPLASCA4SCAHDHDL2CJDSCA1SBMASCA7SCA2CCHSTOFHPE5HFG-IHFG-IIISD5XLMRSCA6PRTSCCDHFG-IIHSAN VIIIEIEE1BPESFAME8OPMDVACTERLXEDM1, PSACHCHNG3HMNR7ADTKD
Allele sizeBenignIntermediatePathogenicAllele size in base pairsDisease

Age of Onset

020406080FECD3CJDSCA36FAME6SCA27BFTDALS1OPMDCANVASSCA37ADTKDFAME7SCA6OPML1SCA4OPDM2HDL2FAME1XDPSCA10OPDMFAME3NIIDOPDM4FAME4SBMASCA31SCA12OPDM1FAME8SCA1EPM1FAME2SCASCA3, MJDEDM1, PSACHSCA17SCA2FRDAGDPAGFRA7AFRAXEFRA2AHDNMEEIEE1PRTSDRPLASCA7SCA8DM2FRA12ADM1FXS, FXTAS, POF1CCHSXLMRHMNR7
InheritanceADARXDXRAge of onset (years)Disease