VACTERLX_ZIC3
- Gene
- ZIC3
- Disease
- VACTERLX
- Inheritance
- XR
- Classification
- Limited
- Total Score
- 3.5
- Publications Reviewed
- 2
- Publication Span
- 10.42 years
- Last Updated
- 08/18/2025
- Curator(s)
- Macayla Weiner, Laurel Hiatt
Description
ZIC3 VACTERLX is supported by two reports of N-terminal polyalanine repeat expansions: a de novo 10-to-12 alanine expansion in one male with VACTERL association overlapping X-linked heterotaxy, and a later report of a large X-linked OAVS family with segregation of a 10-to-11 alanine expansion plus one unrelated male OAVS case with a 10-to-12 alanine expansion. The evidence is locus-specific for the ZIC3 coding polyalanine tract and remains Limited based on available proband/family evidence.
Genetic evidence
Total: 3.5
| Singular Evidence | Probands | PMID:20452998 PMID:32639022 | 3.5 | PMID 20452998: one male neonate with VACTERL association/heterotaxy overlap carried a de novo ZIC3 c.165_166insGCCGCC polyalanine expansion (10 to 12 alanines), absent from the mother and 336 control X chromosomes. PMID 32639022: one X-linked OAVS family had eight affected males segregating ZIC3 c.159_161dup p.(Ala55dup) expansion (10 to 11 alanines), and one unrelated male OAVS case carried a 10-to-12 alanine expansion. |
1 rows
Experimental evidence
Total: 0
No experimental evidence details available.
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.