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.
27 loci
| View | AR | SBMA | Spinal and bulbar muscular atrophy, Kennedy Disease | chrX:67545316-67545419 | XR | ||
| View | ATN1 | DRPLA | Dentatorubral-Pallidoluysian Atrophy | chr12:6936716-6936775 | AD | ||
| View | ATXN1 | SCA1 | Spinocerebellar ataxia type 1 | chr6:16327633-16327724 | AD | ||
| View | ATXN10 | SCA10 | Spinocerebellar ataxia type 10 | chr22:45795354-45795424 | AD | ||
| View | ATXN2 | SCA2 | Spinocerebellar ataxia type 2 | chr12:111598949-111599019 | AD/AR | ||
| View | ATXN3 | SCA3, MJD | Spinocerebellar ataxia type 3/Machado-Joseph disease | chr14:92071010-92071052 | AD | ||
| View | ATXN7 | SCA7 | Spinocerebellar ataxia type 7 | chr3:63912684-63912715 | AD | ||
| View | C9orf72 | FTDALS1 | Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) | chr9:27573484-27573546 | AD | ||
| View | CACNA1A | SCA6 | Spinocerebellar ataxia type 6 | chr19:13207858-13207898 | AD | ||
| View | CSTB | EPM1 | Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD) | chr21:43776442-43776479 | AR | ||
| View | DMPK | DM1 | Myotonic dystrophy type 1 | chr19:45770204-45770266 | AD | ||
| View | FGF14 | SCA27B | Spinocerebellar ataxia 27B | chr13:102161574-102161726 | 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:147912049-147912111 | XD | ||
| View | FXN | FRDA | Friedreich ataxia | chr9:69037286-69037304 | AR | ||
| View | GIPC1 | OPDM2 | Oculopharyngodistal myopathy type 2 | chr19:14496041-14496075 | AD | ||
| View | HTT | HD | Huntington disease | chr4:3074876-3074933 | AD | ||
| View | JPH3 | HDL2 | Huntington disease-like 2 | chr16:87604282-87604329 | AD | ||
| View | LRP12 | OPDM1 | Oculopharyngodistal myopathy type 1 | chr8:104588970-104588999 | AD | ||
| View | NOP56 | SCA36 | Spinocerebellar ataxia type 36 | chr20:2652732-2652757 | AD | ||
| View | NOTCH2NLC | NIID | Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3 | chr1:149390802-149390842 | AD | ||
| View | PABPN1 | OPMD | Oculopharyngeal muscular dystrophy | chr14:23321472-23321503 | AD/AR | ||
| View | PHOX2B | CCHS | Congenital central hypoventilation syndrome | chr4:41745972-41746032 | AD | ||
| View | RFC1 | CANVAS | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | chr4:39348424-39348483 | AR | ||
| View | TAF1 | XDP | X-linked dystonia-parkinsonism (XDP) a.k.a. Dystonia 3, torsion, X-linked (DYT3) | chrX:71453054-71453131 | XR | ||
| View | TBP | SCA17 | Spinocerebellar ataxia type 17 | chr6:170561906-170562017 | AD | ||
| View | THAP11 | SCA | Spinocerebellar ataxia | chr16:67842862-67842950 | AD | ||
| View | ZFHX3 | SCA4 | Spinocerebellar ataxia 4 | chr16:72787694-72787758 | AD |
27 rows
Plots
High-level, visual overview of loci.