ZIC1

Chr 3AD

Zic family zinc finger 1

Also known as: BAIDCS, CRS6, ZIC, ZNF201

NCBI Gene: 7545 ENSG00000152977 UniProt: Q15915 OMIM: 600470

This gene encodes a zinc finger transcription factor that acts as a transcriptional activator involved in neurogenesis and plays important roles in early CNS organogenesis, dorsal spinal cord development, and cerebellar maturation. Mutations cause craniosynostosis 6 and structural brain anomalies with impaired intellectual development and craniosynostosis, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that proper protein function is critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Craniosynostosis 6MIM #616602

Structural brain anomalies with impaired intellectual development and craniosynostosisMIM #618736

Clinical highlights

Gene-disease validity (ClinGen)

craniosynostosis 6 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.36

LOEUF

GOF*

Mechanism· G2P