WDR11

Chr 10ADAR

WD repeat domain 11

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

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.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismAD/ARLOEUF 0.532 OMIM phenotypes
Clinical SummaryWDR11
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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GeneReview available — WDR11
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.53LOEUF
pLI 0.000
Z-score 4.70
OE 0.38 (0.280.53)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.80Z-score
OE missense 0.80 (0.750.86)
528 obs / 657.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.38 (0.280.53)
00.351.4
Missense OE0.80 (0.750.86)
00.61.4
Synonymous OE0.90
01.21.6
LoF obs/exp: 26 / 67.8Missense obs/exp: 528 / 657.6Syn Z: 1.17
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongWDR11-related intellectual disability and microcephalyLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.5477th %ile
GOF
0.3986th %ile
LOF
0.4627th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Literature Evidence

LOFTreatment with the Hh agonist purmorphamine partially rescues the WDR11 haploinsufficiency phenotypes.PMID:29263200

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

WDR11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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