EED
Chr 11ADembryonic ectoderm development
Also known as: COGIS, HEED, WAIT1
The protein is a component of the PRC2/EED-EZH2 complex that methylates histones H3 and H1 to repress gene transcription, including developmental genes like HOX genes. Mutations cause Cohen-Gibson syndrome, which is inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI = 0.999, LOEUF = 0.187), indicating that even single functional copies are critical for normal development.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EED · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Early Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGMaternal Probiotic Intervention to Improve Gut Health - Trial II - Bangladesh
ENROLLING BY INVITATIONMaternal Probiotic Intervention to Improve Gut Health - Trial II - Burkina Faso (MPIGH-II)
RECRUITINGMaternal Probiotic Intervention to Improve Gut Health-Trial II-Pakistan
RECRUITINGExternal Resources
Links to major genomics databases and tools