ZNF292

Chr 6AD

zinc finger protein 292

Also known as: MRD63, MRD64, Nbla00365, ZFP292, ZN-16, Zn-15, bA393I2.3

NCBI Gene: 23036 ENSG00000188994 UniProt: O60281 OMIM: 616213

This gene encodes a zinc finger transcription factor involved in transcriptional regulation. Mutations cause autosomal dominant intellectual developmental disorder, with the gene being highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.14). The inheritance pattern is autosomal dominant.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 64MIM #619188

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· G2P