EMG1
Chr 12AREMG1 N1-specific pseudouridine methyltransferase
Also known as: C2F, Grcc2f, NEP1
This gene encodes a methyltransferase that methylates pseudouridine in 18S ribosomal RNA and plays an essential role in 40S ribosomal subunit biogenesis. Mutations cause Bowen-Conradi syndrome, a severe autosomal recessive disorder characterized by growth restriction, microcephaly, and early lethality. The gene shows tolerance to loss-of-function variation in the general population (pLI 0.00001), but pathogenic mutations in both copies cause this devastating early-onset syndrome.
Primary Disease Associations & Inheritance
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
148 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 43 | 0 | 44 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 42 | 12 | 0 | 54 |
Likely Benign | 0 | 3 | 3 | 8 | 14 |
Benign | 1 | 1 | 1 | 5 | 8 |
| Total | 1 | 47 | 61 | 13 | 122 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EMG1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools