Loci

Tandem repeat loci associated with Mendelian diseases. Full Dataset

Tags

Motif length–

Inheritance

5 loci


		ABCD3	OPDM5	Oculopharyngodistal myopathy type 5	chr1:94418421-94418444	GCC	AD
		GIPC1	OPDM2	Oculopharyngodistal myopathy type 2	chr19:14496041-14496075	CCG	AD
		LRP12	OPDM1	Oculopharyngodistal myopathy type 1	chr8:104588970-104588999	CGC	AD
		NOTCH2NLC	NIID	Neuronal intranuclear inclusion disease, Alzheimer disease and parkinsonism phenotype, Oculopharyngodistal myopathy (OPDM) type 3	chr1:149390802-149390842	GGC	AD
		RILPL1	OPDM4	Oculopharyngodistal myopathy type 4	chr12:123533720-123533750	GGC	AD

5 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