ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 2
  • Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
15338008 2004 study of 7 individuals with Dandy-Walker malformation (DWM) and heterozygous 3q2 deletions defined a critical DWM region encompassing ZIC1 and ZIC4 and demonstrated a similar phenotype in double heterozygous knockout mice.
21204220 2011 report of a patient with DWM and heterozygous ZIC1 and ZIC4 deletion. Deletion was found by chromosome analysis extended 14 Mb and involved many other genes.

Haploinsufficiency phenotype comments:

As all reported deletions involving ZIC1 include its closely linked homolog ZIC4, the clinical consequence of haploinsufficiency for ZIC1 alone is not known.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity