EGR2
Chr 10ADARearly growth response 2
Also known as: AT591, CMT1D, CMT4E, KROX20
This transcription factor contains three tandem C2H2-type zinc fingers and regulates myelination in peripheral nerves. Mutations cause Charcot-Marie-Tooth disease types 1D and 4E, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy type 1, with inheritance patterns that are autosomal dominant or autosomal recessive depending on the specific mutation. The pathogenic mechanism involves loss of function, leading to defective peripheral nerve myelination.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
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.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
486 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 | 13 | 14 | 0 | 27 |
Likely Pathogenic | 0 | 6 | 1 | 0 | 7 |
VUS | 11 | 249 | 19 | 0 | 279 |
Likely Benign | 0 | 3 | 16 | 119 | 138 |
Benign | 0 | 0 | 14 | 1 | 15 |
Conflicting | — | 18 | |||
| Total | 11 | 271 | 64 | 120 | 484 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EGR2 · 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
External Resources
Links to major genomics databases and tools