Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

20 loci


ATN1	DRPLA	Dentatorubral-Pallidoluysian Atrophy	chr12:6936716-6936775	CAG	AD
ATXN1	SCA1	Spinocerebellar ataxia type 1	chr6:16327633-16327724	CTG	AD
ATXN10	SCA10	Spinocerebellar ataxia type 10	chr22:45795354-45795424	ATTCT	AD
ATXN2	SCA2	Spinocerebellar ataxia type 2	chr12:111598949-111599019	CTG	AD/AR
ATXN3	SCA3, MJD	Spinocerebellar ataxia type 3/Machado-Joseph disease	chr14:92071010-92071052	CTG	AD
ATXN7	SCA7	Spinocerebellar ataxia type 7	chr3:63912684-63912715	CAG	AD
ATXN8OS	SCA8	Spinocerebellar ataxia type 8	chr13:70139383-70139429	CTG	AD
BEAN1	SCA31	Spinocerebellar ataxia type 31	chr16:66490396-66490466	TGGAA, TAGAA	AD
CACNA1A	SCA6	Spinocerebellar ataxia type 6	chr19:13207858-13207898	CTG	AD
CSTB	EPM1	Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)	chr21:43776442-43776479	CGCGGGGCGGGG	AR
DAB1	SCA37	Spinocerebellar ataxia type 37	chr1:57367043-57367121	GAAAT	AD
FGF14	SCA27B	Spinocerebellar ataxia 27B	chr13:102161574-102161726	GAA	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	XD
FXN	FRDA	Friedreich ataxia	chr9:69037286-69037304	GAA	AR
NOP56	SCA36	Spinocerebellar ataxia type 36	chr20:2652732-2652757	GGCCTG	AD
PPP2R2B	SCA12	Spinocerebellar ataxia type 12	chr5:146878727-146878759	GCT	AD
RFC1	CANVAS	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	chr4:39348424-39348483	AAGGG, ACAGG, AGGGC, AAGGC, AGAGG	AR
TBP	SCA17	Spinocerebellar ataxia type 17	chr6:170561906-170562017	GCA	AD
THAP11	SCA51	Spinocerebellar ataxia 51	chr16:67842862-67842950	CAG	AD
ZFHX3	SCA4	Spinocerebellar ataxia 4	chr16:72787694-72787758	GCC	AD

20 rowsPer page

Suggest New

Downloads

	T2T-chm13	hg19	hg38
General a general-purpose extended bed file for filtering and annotating loci	.bed	.bed	.bed
TRGT for genotyping full allele sequences in PacBio HiFi reads	.bed	.bed	.bed
Atarva ⚠️ for genotyping full allele sequences in long-read data	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi	.bed .bed.gz .bed.gz.tbi
LongTR ⚠️ for genotyping full allele sequences in long-read data	.bed	.bed	.bed
Straglr ⚠️ for genotyping allele sizes in long read-data	.bed	.bed	.bed
Stranger ⚠️ for annotating TRGT or ExpansionHunter allele sizes with pathologic implications.	.json	.json	.json

Loci

Downloads

Plots

Pathogenic Size Range

Age of Onset