Loci
Downloads
Full DatasetTRGT 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.
73 loci
| View | ABCD3 | OPDM | Oculopharyngodistal myopathy | chr1:94418422-94418444 | AD | ||
| View | AFF2 | FRAXE | Fragile X syndrome, FRAXE type | chrX:148500605-148500753 | XR | ||
| View | AFF3 | FRA2A | Intellectual disability associated with fragile site FRA2A | chr2:100104799-100104824 | AD | ||
| View | AR | SBMA | Spinal and bulbar muscular atrophy, Kennedy Disease | chrX:67545317-67545419 | XR | ||
| View | ARX | EIEE1 | Early-infantile epileptic encephalopathy | chrX:25013649-25013697 | XR | ||
| View | ARX | PRTS | Partington syndrome | chrX:25013530-25013565 | XR | ||
| View | ATN1 | DRPLA | Dentatorubral-Pallidoluysian Atrophy | chr12:6936717-6936775 | AD | ||
| View | ATXN1 | SCA1 | Spinocerebellar Ataxia Type 1 | chr6:16327634-16327724 | AD | ||
| View | ATXN10 | SCA10 | Spinocerebellar Ataxia Type 10 | chr22:45795355-45795424 | AD | ||
| View | ATXN2 | SCA2 | Spinocerebellar Ataxia Type 2 | chr12:111598950-111599019 | AD/AR | ||
| View | ATXN3 | SCA3, MJD | Spinocerebellar Ataxia Type 3/Machado-Joseph Disease | chr14:92071012-92071053 | AD | ||
| View | ATXN7 | SCA7 | Spinocerebellar Ataxia Type 7 | chr3:63912685-63912716 | AD | ||
| View | ATXN8OS | SCA8 | Spinocerebellar Ataxia Type 8 | chr13:70139383-70139429 | AD | ||
| View | BEAN1 | SCA31 | Spinocerebellar Ataxia Type 31 | chr16:66490397-66490466 | AD | ||
| View | C9orf72 | FTDALS1 | Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) | chr9:27573484-27573546 | AD | ||
| View | CACNA1A | SCA6 | Spinocerebellar Ataxia Type 6 | chr19:13207859-13207898 | AD | ||
| View | CBL | JBS | Jacobsen syndrome (FRAX11B fragile site) | chr11:119206289-119206322 | AD | ||
| View | CNBP | DM2 | Myotonic Dystrophy Type 2 | chr3:129172577-129172659 | AD | ||
| View | COMP | EDM1, PSACH | Multiple epiphyseal dysplasia, Pseudoachondroplasia | chr19:18786034-18786049 | AD | ||
| View | CSTB | EPM1 | Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD) | chr21:43776443-43776479 | AR | ||
| View | DAB1 | SCA37 | Spinocerebellar Ataxia Type 37 | chr1:57367044-57367125 | AD | ||
| View | DIP2B | FRA12A | Intellectual developmental disorder, FRA12A type | chr12:50505002-50505022 | AD | ||
| View | DMD | DMD | Duchenne muscular dystrophy | chrX:31284557-31284605 | XR | ||
| View | DMPK | DM1 | Myotonic Dystrophy Type 1 | chr19:45770204-45770266 | AD | ||
| View | EIF4A3 | RCPS | Richieri-Costa-Pereira syndrome | chr17:80147059-80147139 | AR | ||
| View | FGF14 | SCA27B | Spinocerebellar ataxia 27B | chr13:102161577-102161726 | AD | ||
| View | 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:147912037-147912111 | XD | ||
| View | FOXL2 | BPES | Blepharophimosis, epicanthus inversus, and ptosis | chr3:138946020-138946062 | AD/AR | ||
| View | FXN | FRDA | Friedreich ataxia | chr9:69037286-69037304 | AR | ||
| View | GIPC1 | OPDM2 | Oculopharyngodistal myopathy | chr19:14496041-14496074 | AD | ||
| View | GLS | GDPAG | Glutaminase deficiency | chr2:190880873-190880920 | AR | ||
| View | HOXA13 | HFG-I | Hand-foot-genital syndrome 1 | chr7:27199924-27199966 | AD | ||
| View | HOXA13 | HFG-II | Hand-foot-genital syndrome 2 | chr7:27199825-27199861 | AD | ||
| View | HOXA13 | HFG-III | Hand-foot-genital syndrome 3 | chr7:27199678-27199732 | AD | ||
| View | HOXD13 | SD5 | Syndactyly | chr2:176093058-176093103 | AD | ||
| View | HTT | HD | Huntington disease | chr4:3074877-3074940 | AD | ||
| View | JPH3 | HDL2 | Huntington disease-like 2 | chr16:87604283-87604329 | AD | ||
| View | LRP12 | OPDM1 | Oculopharyngodistal myopathy type 1 | chr8:104588972-104588999 | AD | ||
| View | MARCHF6 | FAME3 | Familial adult myoclonic epilepsy type 3 | chr5:10356339-10356411 | AD | ||
| View | MUC1 | ADTKD | Autosomal dominant tubulointerstitial kidney disease | chr1:155188487-155192239 | AD | ||
| View | NAXE | NME | NAXE-related mitochondrial encephalopathy | chr15:156591766-156591783 | AR | ||
| View | NIPA1 | ALS1 | Amyotrophic lateral sclerosis | chr15:22786677-22786701 | AD | ||
| View | NOP56 | SCA36 | Spinocerebellar ataxia type 36 | chr20:2652733-2652757 | AD | ||
| View | NOTCH2NLC | NIID | Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype | chr1:149390803-149390842 | AD | ||
| View | NUTM2B-AS1 | OPML1 | Oculopharyngeal myopathy with leukoencephalopathy 1 | chr10:79826383-79826404 | AD | ||
| View | PABPN1 | OPMD | Oculopharyngeal muscular dystrophy | chr14:23321472-23321502 | AD/AR | ||
| View | PHOX2B | CCHS | Congenital central hypoventilation syndrome | chr4:41745972-41746032 | AD | ||
| View | POLG | CPEO | Progressive external ophthalmoplegia, Parkinson's disease | chr15:89333589-89333629 | |||
| View | PPP2R2B | SCA12 | Spinocerebellar ataxia type 12 | chr5:146878728-146878759 | AD | ||
| View | PRDM12 | HSAN VIII | Hereditary sensory and autonomic neuropathy type VIII | chr9:130681606-130681639 | AR | ||
| View | PRNP | CJD | Creutzfeldt-Jakob disease | chr20:4699397-4699493 | AD | ||
| View | RAI1 | FAME8 | Familial adult myoclonic epilepsy type 8 | chr17:17808359-17808460 | AD | ||
| View | RAPGEF2 | FAME7 | Familial adult myoclonic epilepsy type 7 | chr4:159342527-159342618 | AD | ||
| View | RFC1 | CANVAS | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | chr4:39348425-39348483 | AR | ||
| View | RILPL1 | OPDM4 | Oculopharyngodistal myopathy type 4 | chr12:123533720-123533755 | AD | ||
| View | RUNX2 | CCD | Cleidocranial dysplasia | chr6:45422750-45422792 | AD | ||
| View | SAMD12 | FAME1 | Familial adult myoclonic epilepsy type 1 | chr8:118366813-118366918 | AD | ||
| View | SOX3 | XLMR | X-linked panhypopituitarism ; X-linked mental retardation with isolated growth hormone | chrX:140504316-140504361 | XR | ||
| View | STARD7 | FAME2 | Familial adult myoclonic epilepsy 2 | chr2:96197067-96197121 | AD | ||
| View | TAF1 | XDP | X-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3) | chrX:71453055-71453129 | XR | ||
| View | TBP | SCA17 | Spinocerebellar ataxia type 17 | chr6:170561907-170562017 | AD | ||
| View | TBX1 | TOF | Tetralogy of Fallot | chr22:19766762-19766807 | AD | ||
| View | TCF4 | FECD3 | Fuchs endothelial corneal dystrophy 3 | chr18:55586155-55586227 | AD | ||
| View | THAP11 | SCA | Spinocerebellar ataxia | chr16:67842863-67842950 | AD | ||
| View | TNRC6A | FAME6 | Familial adult myoclonic epilepsy type 6 | chr16:24613439-24613532 | AD | ||
| View | VWA1 | HMNR7 | Neuronopathy, distal hereditary motor, autosomal recessive 7 | chr1:1435798-1435818 | AR | ||
| View | XYLT1 | DBQD2, BSS | Baratela-Scott Syndrome/Desbuquois dysplasia 2 | chr16:17470907-17470922 | AR | ||
| View | YEATS2 | FAME4 | Familial adult myoclonic epilepsy 4 | chr3:183712188-183712222 | AD | ||
| View | ZFHX3 | SCA4 | Spinocerebellar ataxia 4 | chr16:72787695-72787758 | AD | ||
| View | ZIC2 | HPE5 | Holoprosencephaly-5 | chr13:99985448-99985493 | AD | ||
| View | ZIC3 | VACTERLX | X-linked VACTERL syndrome | chrX:137566826-137566856 | XR | ||
| View | ZNF713 | FRA7A | Autism spectrum disorder associated with fragile site FRA7A | chr7:55887601-55887639 | AD | ||
| View | pre-MIR7-2 | CHNG3 | Nongoitrous congenital hypothyroidism-3 | chr15:88569434-88569449 | AD |
73 rows
Plots
High-level, visual overview of loci.