Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

9 loci


		ATN1	DRPLA	Dentatorubral-Pallidoluysian Atrophy	chr12:6936716-6936775	CAG	AD
		CSTB	EPM1	Progressive Myoclonic Epilepsy Type 1 (EPM1) Unverricht-Lundborg Disease (ULD)	chr21:43776442-43776479	CGCGGGGCGGGG	AR
		MARCHF6	FAME3	Familial adult myoclonic epilepsy type 3	chr5:10356343-10356411	TTTCA	AD
		RAI1	FAME8	Familial adult myoclonic epilepsy type 8	chr17:17808358-17808460	TTTCA	AD
		RAPGEF2	FAME7	Familial adult myoclonic epilepsy type 7	chr4:159342526-159342618	TTTCA	AD
		SAMD12	FAME1	Familial adult myoclonic epilepsy type 1	chr8:118366812-118366918	TGAAA	AD
		STARD7	FAME2	Familial adult myoclonic epilepsy 2	chr2:96197066-96197124	AAATG	AD
		TNRC6A	FAME6	Familial adult myoclonic epilepsy type 6	chr16:24613438-24613532	TTTCA	AD
		YEATS2	FAME4	Familial adult myoclonic epilepsy 4	chr3:183712187-183712226	TTTCA	AD

9 rowsPer page

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

⚠️ Still under development, use with caution

Plots

High-level, visual overview of loci.

Pathogenic Size Range

Age of Onset