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.

20 loci
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ATN1DRPLADentatorubral-Pallidoluysian Atrophychr12:6936716-6936775
CAG
AD
View
ATXN1SCA1Spinocerebellar ataxia type 1chr6:16327633-16327724
CTG
AD
View
ATXN10SCA10Spinocerebellar ataxia type 10chr22:45795354-45795424
ATTCT
AD
View
ATXN2SCA2Spinocerebellar ataxia type 2chr12:111598949-111599019
CTG
AD/AR
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ATXN3SCA3, MJDSpinocerebellar ataxia type 3/Machado-Joseph diseasechr14:92071010-92071052
CTG
AD
View
ATXN7SCA7Spinocerebellar ataxia type 7chr3:63912684-63912715
CAG
AD
View
ATXN8OSSCA8Spinocerebellar ataxia type 8chr13:70139383-70139429
CTG
AD
View
BEAN1SCA31Spinocerebellar ataxia type 31chr16:66490396-66490466
TGGAA, TAGAA
AD
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CACNA1ASCA6Spinocerebellar ataxia type 6chr19:13207858-13207898
CTG
AD
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CSTBEPM1Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)chr21:43776442-43776479
CGCGGGGCGGGG
AR
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DAB1SCA37Spinocerebellar ataxia type 37chr1:57367043-57367121
GAAAT
AD
View
FGF14SCA27BSpinocerebellar ataxia 27Bchr13:102161574-102161726
GAA
AD
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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
FXNFRDAFriedreich ataxiachr9:69037286-69037304
GAA
AR
View
NOP56SCA36Spinocerebellar ataxia type 36chr20:2652732-2652757
GGCCTG
AD
View
PPP2R2BSCA12Spinocerebellar ataxia type 12chr5:146878727-146878759
GCT
AD
View
RFC1CANVASCerebellar ataxia, neuropathy, and vestibular areflexia syndromechr4:39348424-39348483
AAGGG, ACAGG, AGGGC, AAGGC, AGAGG
AR
View
TBPSCA17Spinocerebellar ataxia type 17chr6:170561906-170562017
GCA
AD
View
THAP11SCASpinocerebellar ataxiachr16:67842862-67842950
CAG
AD
View
ZFHX3SCA4Spinocerebellar ataxia 4chr16:72787694-72787758
GCC
AD
20 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