ERI1 Chromosome 8
Exoribonuclease 1
Upload your DNA to see your personal genotypes for variants in ERI1.
What This Gene Does
Enables 3'-5' exonuclease activity. Involved in maturation of 5.8S rRNA. Located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Exonucleases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8p23.1
Ensembl
ENSG00000104626
Associated Conditions (9)
Abnormal finger morphology
Coarse facial features
Unilateral renal agenesis
Global developmental delay
Spondyloepimetaphyseal dysplasia
Guo-Campeau type
Hoxha-Aliu syndrome
See cases
ERI1-associated disorder
Key Variants
RS1563322318
Likely pathogenic
Abnormal finger morphology, Coarse facial features, Unilateral renal agenesis
Health Risk
RS2486175152
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2486218891
Likely pathogenic
Hoxha-Aliu syndrome, Hoxha-Aliu syndrome
Health Risk
RS2486219481
Likely pathogenic
See cases, Spondyloepimetaphyseal dysplasia, Guo-Campeau type
Health Risk
RS2486219940
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2486243611
Likely pathogenic
Hoxha-Aliu syndrome, Hoxha-Aliu syndrome
Health Risk
RS2486309230
Likely pathogenic
See cases, Spondyloepimetaphyseal dysplasia, Guo-Campeau type
Health Risk
RS766625084
Likely pathogenic
ERI1-associated disorder, Hoxha-Aliu syndrome, ERI1-associated disorder
Health Risk
RS982911729
Likely pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia
Health Risk
RS1221141256
Pathogenic
Hoxha-Aliu syndrome, Hoxha-Aliu syndrome
Health Risk
RS1433280953
Pathogenic
Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1563322318 | Health Risk | Likely pathogenic | Abnormal finger morphology, Coarse facial features, Unilateral renal agenesis |
| RS2486175152 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia |
| RS2486218891 | Health Risk | Likely pathogenic | Hoxha-Aliu syndrome, Hoxha-Aliu syndrome |
| RS2486219481 | Health Risk | Likely pathogenic | See cases, Spondyloepimetaphyseal dysplasia, Guo-Campeau type |
| RS2486219940 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia |
| RS2486243611 | Health Risk | Likely pathogenic | Hoxha-Aliu syndrome, Hoxha-Aliu syndrome |
| RS2486309230 | Health Risk | Likely pathogenic | See cases, Spondyloepimetaphyseal dysplasia, Guo-Campeau type |
| RS766625084 | Health Risk | Likely pathogenic | ERI1-associated disorder, Hoxha-Aliu syndrome, ERI1-associated disorder |
| RS982911729 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia |
| RS1221141256 | Health Risk | Pathogenic | Hoxha-Aliu syndrome, Hoxha-Aliu syndrome |
| RS1433280953 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, Guo-Campeau type, Spondyloepimetaphyseal dysplasia |