ClinGen Dosage Sensitivity Curation Page
ZIC1
- Curation Status: Complete
- id: ISCA-37134
- Date last evaluated: 2012-03-22
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about ZIC1 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/7545
- OMIM: https://omim.org/entry/600470
- ClinGen Haploinsufficiency Score: 2
- ClinGen Triplosensitivity Score: 0
- ExAC pLI score: 0.825
Select assembly:
(NC_000003.11)
(NC_000003.12)
- Haploinsufficiency score: 2
- Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
| 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