WDR73

Chr 15AR

WD repeat domain 73

Also known as: GAMOS, GAMOS1, HSPC264

NCBI Gene: 84942 ENSG00000177082 UniProt: Q6P4I2 OMIM: 616144

WDR73 encodes a cytoplasmic protein that assembles the RNA endonuclease module of the integrator complex by stabilizing the INTS9-INTS11 heterodimer before nuclear import. Biallelic mutations cause Galloway-Mowat syndrome 1, an autosomal recessive disorder affecting the central nervous system and kidneys. The gene shows extreme intolerance to loss-of-function variants (pLI near zero), indicating that heterozygous loss-of-function is likely benign.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Galloway-Mowat syndrome 1MIM #251300

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)

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P/LP submissions

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P/LP missense

1.26

LOEUF

LOF

Mechanism· G2P

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GeneReview available — WDR73