STRs database » ZIC3 locus

Gene	ZIC3
Location	Coding in Xq26.3
Reference region	chrX:137566826-137566856 (hg38) chrX:136648985-136649015 (hg19) chrX:135876774-135876804 (hs1)
Repeat unit	GCC
Repeat type	Standard

Distribution of repeats in a superpopulation

→ View repeat distributions in gnomAD database

Overview of repeats

One reported patient had a two-repeat expansion in exon 1 of the ZIC3 gene which was responsible for developing X-linked VACTERL syndrome. The patient with the mutation died an hour after birth. It was later determined that the repeat length expanded from 10 to 12 repeats of alanine coded by GCC repeat. None of the 336 controls nor the mother had an expansion in the locus (Wessels et al. (2010)).

→ View STRipy's population-wide repeat data for ZIC3 locus

Disease(s) and range of repeats

Disease	Onset	Inheritance	Normal	Intermediate	Pathogenic
X-linked VACTERL syndrome (VACTERLX)	Paediatric	X-linked recessive	10	-	≥12