ZBTB18

Chr 1AD

zinc finger and BTB domain containing 18

Also known as: C1DELq42q44, C1DELq43q44, C2H2-171, DEL1Q42Q44, DEL1Q43Q44, MRD22, RP58, TAZ-1

NCBI Gene: 10472 ENSG00000179456 UniProt: Q99592 OMIM: 608433

The protein is a C2H2-type zinc finger transcriptional repressor that recognizes specific DNA sequence motifs and recruits chromatin components to repress genes involved in neuronal development. Mutations cause intellectual developmental disorder, autosomal dominant 22 through a loss-of-function mechanism. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 22MIM #612337

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

0.18

LOEUF· LoF intol.

LOF

Mechanism· G2P