WDR73

Chr 15AR

WD repeat domain 73

Also known as: GAMOS, GAMOS1, HSPC264

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.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.261 OMIM phenotype
Clinical SummaryWDR73
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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GeneReview available — WDR73
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.26LOEUF
pLI 0.000
Z-score 0.72
OE 0.82 (0.551.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.46Z-score
OE missense 1.09 (0.981.22)
225 obs / 206.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.82 (0.551.26)
00.351.4
Missense OE1.09 (0.981.22)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 15 / 18.3Missense obs/exp: 225 / 206.4Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

WDR73 · 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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