HIC1

Chr 17

HIC ZBTB transcriptional repressor 1

Also known as: ZBTB29, ZNF901, hic-1

NCBI Gene: 3090 ENSG00000177374 UniProt: Q14526

HIC1 encodes a transcriptional repressor that regulates cell cycle genes, Wnt signaling, and developmental processes affecting the head, face, limbs, and ventral body wall. Mutations cause autosomal dominant intellectual disability with distinctive facial features, microcephaly, and developmental delays, with onset typically apparent in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.648), and haploinsufficiency has been associated with contiguous gene deletion syndromes.

ResearchSummary from RefSeq, UniProt

This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

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Mechanism

Some data sources returned errors (1)

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