EGR2 Chromosome 10
Early growth response 2
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What This Gene Does
The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000122877
Associated Conditions (12)
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 1D
Dejerine-sottas neuropathy
autosomal dominant
Dejerine-Sottas disease
Charcot-Marie-Tooth disease
type I
Inborn genetic diseases
EGR2-related disorder
Tip-toe gait
ERG2-related disorder
Neoplasm
Key Variants
RS104894158
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 4E
Health Risk
RS104894161
Conflicting classifications of pathogenicity
Dejerine-sottas neuropathy, autosomal dominant, Charcot-Marie-Tooth disease type 1D
Health Risk
RS138967272
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS139147487
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D
Health Risk
RS146631014
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D
Health Risk
RS1589080611
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1D
Health Risk
RS1842187600
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS202183386
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D
Health Risk
RS2492293699
Conflicting classifications of pathogenicity
ERG2-related disorder, Charcot-Marie-Tooth disease type 1D, ERG2-related disorder
Health Risk
RS530614586
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Inborn genetic diseases
Health Risk
RS565355765
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
RS746579337
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894158 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4E, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 4E |
| RS104894161 | Health Risk | Conflicting classifications of pathogenicity | Dejerine-sottas neuropathy, autosomal dominant, Charcot-Marie-Tooth disease type 1D |
| RS138967272 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS139147487 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D |
| RS146631014 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D |
| RS1589080611 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1D |
| RS1842187600 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS202183386 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D |
| RS2492293699 | Health Risk | Conflicting classifications of pathogenicity | ERG2-related disorder, Charcot-Marie-Tooth disease type 1D, ERG2-related disorder |
| RS530614586 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS565355765 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS746579337 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS753747037 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Inborn genetic diseases |
| RS779811073 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS886047093 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease, type I |
| RS886047094 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease, type I |
| RS1842163821 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease, type I, EGR2-related disorder |
| RS2492293960 | Health Risk | Likely pathogenic | — |
| RS104894159 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease, type I |
| RS121434563 | Health Risk | Pathogenic | Dejerine-sottas neuropathy, autosomal dominant, Charcot-Marie-Tooth disease |
| RS1589080524 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D |
| RS2132702182 | Health Risk | Pathogenic | Dejerine-Sottas disease, Dejerine-Sottas disease |
| RS2132702519 | Health Risk | Pathogenic | Dejerine-Sottas disease, Dejerine-Sottas disease |
| RS281865136 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease, type I |
| RS281865137 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease, type I |
| RS749558026 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease type 1D |
| RS751448371 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS879254278 | Health Risk | Pathogenic | — |
| RS1589080604 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |
| RS864622273 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, type I, Charcot-Marie-Tooth disease |