VACTERLX_ZIC3-critria-update#435
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hdashnow
approved these changes
May 22, 2026
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Updated the criTRia curation entry for ZIC3–VACTERLX by refining the root-level description and improving the existing proband evidence detail based on the provided PMID sources.
Minor Changes
Updated the Description field for the ZIC3–VACTERLX locus-disease relationship.
Refined the existing Probands evidence detail to describe:
One de novo ZIC3 polyalanine expansion case with VACTERL/heterotaxy overlap from PMID:20452998.
One X-linked OAVS family with segregation of ZIC3 p.Ala55dup and one unrelated OAVS case with a 10-to-12 alanine expansion from PMID:32639022.
No scores, evidence rows, summaries, classification, or publication metadata were changed.