Loci
Tandem repeat loci associated with Mendelian diseases. Full Dataset
Motif length–
75 loci
| ABCD3 | OPDM5 | Oculopharyngodistal myopathy type 5 | chr1:94418421-94418444 | GCC (3) | AD | ||
| AFF2 | FRAXE | Fragile X syndrome, FRAXE type | chrX:148500604-148500753 | GCC (3) | XR | ||
| AFF3 | FRA2A | Intellectual disability associated with fragile site FRA2A | chr2:100104798-100104824 | GCC (3) | AD | ||
| AR | SBMA | Spinal and bulbar muscular atrophy, Kennedy Disease | chrX:67545316-67545419 | GCA (3) | XR | ||
| ARX | EIEE1 | Early-infantile epileptic encephalopathy | chrX:25013649-25013697 | NGC (3) | XR | ||
| ARX | PRTS | Partington syndrome | chrX:25013529-25013565 | NGC (3) | XR | ||
| ATN1 | DRPLA | Dentatorubral-Pallidoluysian Atrophy | chr12:6936716-6936775 | CAG (3) | AD | ||
| ATXN1 | SCA1 | Spinocerebellar ataxia type 1 | chr6:16327633-16327724 | CTG (3) | AD | ||
| ATXN10 | SCA10 | Spinocerebellar ataxia type 10 | chr22:45795354-45795424 | ATTCT (5) | AD | ||
| ATXN2 | SCA2 | Spinocerebellar ataxia type 2 | chr12:111598949-111599019 | CTG (3) | AD/AR | ||
| ATXN3 | SCA3, MJD | Spinocerebellar ataxia type 3/Machado-Joseph disease | chr14:92071010-92071052 | CTG (3) | AD | ||
| ATXN7 | SCA7 | Spinocerebellar ataxia type 7 | chr3:63912684-63912715 | CAG (3) | AD | ||
| ATXN8OS | SCA8 | Spinocerebellar ataxia type 8 | chr13:70139383-70139429 | CTG (3) | AD | ||
| BEAN1 | SCA31 | Spinocerebellar ataxia type 31 | chr16:66490396-66490466 | TGGAA, TAGAA (5, 5) | AD | ||
| C9orf72 | FTDALS1 | Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) | chr9:27573484-27573546 | GGCCCC (6) | AD | ||
| CACNA1A | SCA6 | Spinocerebellar ataxia type 6 | chr19:13207858-13207898 | CTG (3) | AD | ||
| CBL | JBS | Jacobsen syndrome (FRAX11B fragile site) | chr11:119206289-119206323 | CGG (3) | AD | ||
| CNBP | DM2 | Myotonic dystrophy type 2 | chr3:129172576-129172656 | CAGG (4) | AD | ||
| COMP | EDM1, PSACH | Multiple epiphyseal dysplasia, Pseudoachondroplasia | chr19:18786034-18786050 | GTC (3) | AD | ||
| CSTB | EPM1 | Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD) | chr21:43776442-43776479 | CGCGGGGCGGGG (12) | AR | ||
| DAB1 | SCA37 | Spinocerebellar ataxia type 37 | chr1:57367043-57367121 | GAAAT (5) | AD | ||
| DIP2B | FRA12A | Intellectual developmental disorder, FRA12A type | chr12:50505001-50505024 | GGC (3) | AD | ||
| DMD | DMD | Duchenne muscular dystrophy | chrX:31284557-31284605 | TTC (3) | XR | ||
| DMPK | DM1 | Myotonic dystrophy type 1 | chr19:45770204-45770266 | CAG (3) | AD | ||
| EIF4A3 | RCPS | Richieri-Costa-Pereira syndrome | chr17:80147009-80147139 | CCTCGCTGTGCCGCTGCCGA (20) | AR | ||
| FGF14 | SCA27B | Spinocerebellar ataxia 27B | chr13:102161574-102161726 | GAA (3) | AD | ||
| FMR1 | FXS, FXTAS, POF1 | Fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency FXPOI/POF1 | chrX:147912049-147912111 | CGG (3) | XD | ||
| FOXL2 | BPES | Blepharophimosis, epicanthus inversus, and ptosis | chr3:138946019-138946062 | NGC (3) | AD/AR | ||
| FXN | FRDA | Friedreich ataxia | chr9:69037286-69037304 | GAA (3) | AR | ||
| GIPC1 | OPDM2 | Oculopharyngodistal myopathy type 2 | chr19:14496041-14496075 | CCG (3) | AD | ||
| GLS | GDPAG | Glutaminase deficiency | chr2:190880872-190880920 | GCA (3) | AR | ||
| HOXA13 | HFG-I | Hand-foot-genital syndrome 1 | chr7:27199924-27199966 | NGC (3) | AD | ||
| HOXA13 | HFG-II | Hand-foot-genital syndrome 2 | chr7:27199825-27199861 | NGC (3) | AD | ||
| HOXA13 | HFG-III | Hand-foot-genital syndrome 3 | chr7:27199678-27199732 | NGC (3) | AD | ||
| HOXD13 | SD5 | Syndactyly | chr2:176093058-176093103 | GCN (3) | AD | ||
| HTT | HD | Huntington disease | chr4:3074876-3074933 | CAG (3) | AD | ||
| JPH3 | HDL2 | Huntington disease-like 2 | chr16:87604282-87604329 | CTG (3) | AD | ||
| LRP12 | OPDM1 | Oculopharyngodistal myopathy type 1 | chr8:104588970-104588999 | CGC (3) | AD | ||
| MARCHF6 | FAME3 | Familial adult myoclonic epilepsy type 3 | chr5:10356343-10356411 | TTTCA (5) | AD | ||
| MIR7-2 | CHNG3 | Nongoitrous congenital hypothyroidism-3 | chr15:88569433-88569452 | TTTG (4) | AD | ||
| MUC1 | ADTKD | Autosomal dominant tubulointerstitial kidney disease | chr1:155188505-155192239 | GCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCA (61) | AD | ||
| NAXE | NME | NAXE-related mitochondrial encephalopathy | chr1:156591765-156591783 | GGGCC (5) | AR | ||
| NIPA1 | ALS1 | Amyotrophic lateral sclerosis | chr15:22786677-22786703 | GCG (3) | AD | ||
| NOP56 | SCA36 | Spinocerebellar ataxia type 36 | chr20:2652732-2652757 | GGCCTG (6) | AD | ||
| NOTCH2NLC | NIID | Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3 | chr1:149390802-149390842 | GGC (3) | AD | ||
| NUTM2B-AS1 | OPML1 | Oculopharyngeal myopathy with leukoencephalopathy 1 | chr10:79826383-79826404 | GGC (3) | AD | ||
| PABPN1 | OPMD | Oculopharyngeal muscular dystrophy | chr14:23321472-23321503 | GCN (3) | AD/AR | ||
| PHOX2B | CCHS | Congenital central hypoventilation syndrome | chr4:41745972-41746032 | GCN (3) | AD | ||
| PLIN4 | MRUPAV | Myopathy with Rimmed Ubiquitin-Positive Autophagic Vacuolation, PLIN4-Related Myopathy | chr19:4510727-4513659 | TGGTGTCCACGCCGGTCTGGATGGTTCCTTTGGCCACATTCATGGCACCAGTCACCCCACTACAGACGGTGTCCTTGGTACCTGTTAGGACAGTCTTAC (99) | AD | ||
| POLG | CPEO | Progressive external ophthalmoplegia, Parkinson's disease | chr15:89333588-89333629 | GCT (3) | |||
| PPP2R2B | SCA12 | Spinocerebellar ataxia type 12 | chr5:146878727-146878759 | GCT (3) | AD | ||
| PRDM12 | HSAN VIII | Hereditary sensory and autonomic neuropathy type VIII | chr9:130681605-130681641 | GCC (3) | AR | ||
| PRNP | CJD | Creutzfeldt-Jakob disease | chr20:4699397-4699493 | CCTCATGGTGGTGGCTGGGGGCAG (24) | AD | ||
| RAI1 | FAME8 | Familial adult myoclonic epilepsy type 8 | chr17:17808358-17808460 | TTTCA (5) | AD | ||
| RAPGEF2 | FAME7 | Familial adult myoclonic epilepsy type 7 | chr4:159342526-159342618 | TTTCA (5) | AD | ||
| RFC1 | CANVAS | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | chr4:39348424-39348483 | AAGGG, ACAGG, AGGGC, AAGGC, AGAGG (5, 5, 5, 5, 5) | AR | ||
| RILPL1 | OPDM4 | Oculopharyngodistal myopathy type 4 | chr12:123533720-123533750 | GGC (3) | AD | ||
| RUNX2 | CCD | Cleidocranial dysplasia | chr6:45422750-45422801 | GCN (3) | AD | ||
| SAMD12 | FAME1 | Familial adult myoclonic epilepsy type 1 | chr8:118366812-118366918 | TGAAA (5) | AD | ||
| SOX3 | XLMR | X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone | chrX:140504316-140504361 | NGC (3) | XR | ||
| STARD7 | FAME2 | Familial adult myoclonic epilepsy 2 | chr2:96197066-96197124 | AAATG (5) | AD | ||
| TAF1 | XDP | X-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3) | chrX:71453054-71453131 | AGAGGG (6) | XR | ||
| TBP | SCA17 | Spinocerebellar ataxia type 17 | chr6:170561906-170562017 | GCA (3) | AD | ||
| TBX1 | TOF | Tetralogy of Fallot | chr22:19766762-19766807 | GCN (3) | AD | ||
| TCF4 | FECD3 | Fuchs endothelial corneal dystrophy 3 | chr18:55586153-55586229 | CAG (3) | AD | ||
| THAP11 | SCA51 | Spinocerebellar ataxia 51 | chr16:67842862-67842950 | CAG (3) | AD | ||
| TNRC6A | FAME6 | Familial adult myoclonic epilepsy type 6 | chr16:24613438-24613532 | TTTCA (5) | AD | ||
| TYMS | CPUM | Congenital Progressive Universal Melanosis | chr18:666891-667632 | GATGGT (6) | AR | ||
| VWA1 | HMNR7 | Neuronopathy, distal hereditary motor, autosomal recessive 7 | chr1:1435798-1435818 | GGCGCGGAGC (10) | AR | ||
| XYLT1 | DBQD2, BSS | Baratela-Scott Syndrome/Desbuquois dysplasia 2 | chr16:17470907-17470922 | GCC (3) | AR | ||
| YEATS2 | FAME4 | Familial adult myoclonic epilepsy 4 | chr3:183712187-183712226 | TTTCA (5) | AD | ||
| ZFHX3 | SCA4 | Spinocerebellar ataxia 4 | chr16:72787694-72787758 | GCC (3) | AD | ||
| ZIC2 | HPE5 | Holoprosencephaly-5 | chr13:99985448-99985494 | GCN (3) | AD | ||
| ZIC3 | VACTERLX | X-linked VACTERL syndrome | chrX:137566826-137566856 | GCN (3) | XR | ||
| ZNF713 | FRA7A | Autism spectrum disorder associated with fragile site FRA7A | chr7:55887600-55887639 | GCG (3) | AD |
75 rows
Downloads
| T2T-chm13 | hg19 | hg38 | |
|---|---|---|---|
| General a general-purpose extended bed file for filtering and annotating loci | |||
| TRGT for genotyping full allele sequences in PacBio HiFi reads | |||
| Atarva ⚠️ for genotyping full allele sequences in long-read data | |||
| LongTR ⚠️ for genotyping full allele sequences in long-read data | |||
| Straglr ⚠️ for genotyping allele sizes in long read-data | |||
| Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications. |
⚠️ Still under development, use with caution
Plots
High-level, visual overview of loci.