EPG5 Chromosome 18
Ectopic P-granules 5 autophagy tethering factor
Upload your DNA to see your personal genotypes for variants in EPG5.
What This Gene Does
This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
Associated Conditions (7)
Vici syndrome
Inborn genetic diseases
EPG5-related disorder
Intellectual disability
Limb-girdle muscular dystrophy
Malignant tumor of urinary bladder
Syndromic retinitis pigmentosa
Key Variants
RS1027702347
Conflicting classifications of pathogenicity
Vici syndrome, Inborn genetic diseases, Vici syndrome
Health Risk
RS1135402736
Conflicting classifications of pathogenicity
Vici syndrome, Vici syndrome
Health Risk
RS116076204
Conflicting classifications of pathogenicity
Vici syndrome, Inborn genetic diseases, EPG5-related disorder
Health Risk
RS1213600316
Conflicting classifications of pathogenicity
Vici syndrome, Inborn genetic diseases, Vici syndrome
Health Risk
RS144334723
Conflicting classifications of pathogenicity
Vici syndrome, EPG5-related disorder, Inborn genetic diseases
Health Risk
RS144860976
Conflicting classifications of pathogenicity
Inborn genetic diseases, Vici syndrome, EPG5-related disorder
Health Risk
RS148641800
Conflicting classifications of pathogenicity
Vici syndrome, EPG5-related disorder, Vici syndrome
Health Risk
RS1568116795
Conflicting classifications of pathogenicity
Vici syndrome, Inborn genetic diseases, Vici syndrome
Health Risk
RS182512524
Conflicting classifications of pathogenicity
Vici syndrome, EPG5-related disorder, Vici syndrome
Health Risk
RS189145719
Conflicting classifications of pathogenicity
Vici syndrome, Vici syndrome
Health Risk
RS191244915
Conflicting classifications of pathogenicity
Vici syndrome, EPG5-related disorder, Limb-girdle muscular dystrophy
Health Risk
RS200079588
Conflicting classifications of pathogenicity
Vici syndrome, Inborn genetic diseases, Vici syndrome
Health Risk
All Variants (209)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS746036349 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS758184848 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS767638289 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS780889226 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, EPG5-related disorder, Vici syndrome |
| RS863225064 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS866435487 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS886043244 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS961245497 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, Vici syndrome |
| RS986592823 | Health Risk | Pathogenic/Likely pathogenic | Vici syndrome, EPG5-related disorder, Vici syndrome |