Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

8 loci


		ABCD3	OPDM5	Oculopharyngodistal myopathy type 5	chr1:94418421-94418444	GCC	AD
		FGF14	SCA27B	Spinocerebellar ataxia 27B	chr13:102161574-102161726	GAA	AD
		MIR7-2	CHNG3	Nongoitrous congenital hypothyroidism-3	chr15:88569433-88569452	TTTG	AD
		NAXE	NME	NAXE-related mitochondrial encephalopathy	chr1:156591765-156591783	GGGCC	AR
		RAI1	FAME8	Familial adult myoclonic epilepsy type 8	chr17:17808358-17808460	TTTCA	AD
		THAP11	SCA	Spinocerebellar ataxia	chr16:67842862-67842950	CAG	AD
		TYMS	CPUM	Congenital Progressive Universal Melanosis	chr18:666891-667632	GATGGT	AR
		ZFHX3	SCA4	Spinocerebellar ataxia 4	chr16:72787694-72787758	GCC	AD

8 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