WDR37

Chr 10AD

WD repeat domain 37

Also known as: NOCGUS

NCBI Gene: 22884 ENSG00000047056 UniProt: Q9Y2I8 OMIM: 618586

This protein is required for normal endoplasmic reticulum calcium handling in lymphocytes and plays an essential role in stabilizing peripheral lymphocyte populations together with PACS1. Mutations cause neurooculocardiogenitourinary syndrome, a multisystem disorder affecting the nervous system, eyes, heart, and genitourinary tract, with autosomal dominant inheritance. The gene shows significant constraint against loss-of-function variants (LOEUF 0.412), indicating that such variants are likely pathogenic.

OMIM 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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurooculocardiogenitourinary syndromeMIM #618652

Clinical highlights

Gene-disease validity (ClinGen)

neurooculocardiogenitourinary syndrome · ADDefinitivesufficient evidence for diagnostic panels

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.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

0.41

LOEUF

Multiple*

Mechanism· predicted