WDR11

Chr 10

WD repeat domain 11

Also known as: BRWD2, DR11, HH14, SRI1, WDR15

NCBI Gene: 55717 ENSG00000120008 UniProt: Q9BZH6

This protein is essential for ciliogenesis and regulates Hedgehog signaling pathway components, including GLI3 processing and gonadotropin-releasing hormone production. Mutations cause hypogonadotropic hypogonadism with or without anosmia and autosomal recessive intellectual developmental disorder. The gene shows both autosomal dominant and autosomal recessive inheritance patterns and is highly constrained against loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypogonadotropic hypogonadism 14 with or without anosmia

UniProtIntellectual developmental disorder, autosomal recessive 78

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.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

0.53

LOEUF

LOF

Mechanism· G2P

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GeneReview available — WDR11